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<meta name="keywords" content="C0042870, avitaminosis d, avitaminosis d, nos, decreased circulating vitamin d concentration, defic vitamin d, deficiencies, vitamin d, deficiency of vitamin d (disorder), deficiency, vitamin d, deficient in vitamin d, disease or syndrome, low levels of vitamin d, vitamin d defic, vitamin d deficiencies, vitamin d deficiency, vitamin d deficiency (disorder), vitamin d deficiency, nos, vitamin d insufficiency, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="The concentration of vitamin D in the blood circulation is below the lower limit of normal." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Decreased circulating vitamin D concentration (Concept Id: C0042870)
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<!--
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UID=12114
|
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ConceptID=C0042870
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Decreased circulating vitamin D concentration</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12114</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0042870</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Vitamin D deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Vitamin D deficiency (34713006); Avitaminosis D (34713006)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0100512">HP:0100512</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0100471" target="_blank">MONDO:0100471</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">The concentration of vitamin D in the blood circulation is below the lower limit of normal. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Decreased circulating vitamin D concentration</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1703500" ref="tree=MeSH" title="MedGen record for Abnormal metabolism">Abnormal metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/867647" ref="tree=MeSH" title="MedGen record for Abnormality of vitamin metabolism">Abnormality of vitamin metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/867646" ref="tree=MeSH" title="MedGen record for Abnormality of vitamin D metabolism">Abnormality of vitamin D metabolism</a></span><ul><li><span class="matched_ds">Decreased circulating vitamin D concentration</span><ul><li><span class="TLline"><a href="/medgen/695925" ref="tree=MeSH" title="MedGen record for Deficiency of vitamin D3">Deficiency of vitamin D3</a></span></li><li><span class="TLline"><a href="/medgen/48470" ref="tree=MeSH" title="MedGen record for Rickets">Rickets</a></span><ul><li><span class="TLline"><a href="/medgen/476088" ref="tree=MeSH" title="MedGen record for Acquired Rickets">Acquired Rickets</a></span></li><li><span class="TLline"><a href="/medgen/854493" ref="tree=MeSH" title="MedGen record for Adult Rickets">Adult Rickets</a></span></li><li><span class="TLline"><a href="/medgen/1384003" ref="tree=MeSH" title="MedGen record for Calcium Deficiency Rickets">Calcium Deficiency Rickets</a></span><ul><li><span class="TLline"><a href="/medgen/1388842" ref="tree=MeSH" title="MedGen record for Nutritional Calcium Deficient Rickets">Nutritional Calcium Deficient Rickets</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/474722" ref="tree=MeSH" title="MedGen record for Childhood Rickets">Childhood Rickets</a></span><ul><li><span class="TLline"><a href="/medgen/473169" ref="tree=MeSH" title="MedGen record for Metabolic bone disease of prematurity">Metabolic bone disease of prematurity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/885556" ref="tree=MeSH" title="MedGen record for Chronic kidney disease mineral and bone disorder">Chronic kidney disease mineral and bone disorder</a></span></li><li><span class="TLline"><a href="/medgen/168056" ref="tree=MeSH" title="MedGen record for Dent disease">Dent disease</a></span><ul><li><span class="TLline"><a href="/medgen/336322" ref="tree=MeSH" title="MedGen record for Dent disease type 1">Dent disease type 1</a></span></li><li><span class="TLline"><a href="/medgen/336867" ref="tree=MeSH" title="MedGen record for Dent disease type 2">Dent disease type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/196551" ref="tree=MeSH" title="MedGen record for Familial X-linked hypophosphatemic vitamin D refractory rickets">Familial X-linked hypophosphatemic vitamin D refractory rickets</a></span></li><li><span class="TLline"><a href="/medgen/927864" ref="tree=MeSH" title="MedGen record for Hypocalcemic rickets">Hypocalcemic rickets</a></span><ul><li><span class="TLline"><a href="/medgen/124344" ref="tree=MeSH" title="MedGen record for Vitamin D-dependent rickets, type 1">Vitamin D-dependent rickets, type 1</a></span></li><li><span class="TLline"><a href="/medgen/760752" ref="tree=MeSH" title="MedGen record for Vitamin D-dependent rickets, type 2">Vitamin D-dependent rickets, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/309957" ref="tree=MeSH" title="MedGen record for Hypophosphatemic rickets">Hypophosphatemic rickets</a></span><ul><li><span class="TLline"><a href="/medgen/501133" ref="tree=MeSH" title="MedGen record for Autosomal recessive hypophosphatemic bone disease">Autosomal recessive hypophosphatemic bone disease</a></span></li><li><span class="TLline"><a href="/medgen/980781" ref="tree=MeSH" title="MedGen record for Hereditary hypophosphatemic rickets">Hereditary hypophosphatemic rickets</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1385792" ref="tree=MeSH" title="MedGen record for Nutritional Rickets">Nutritional Rickets</a></span><ul><li><span class="TLline"><a href="/medgen/1376736" ref="tree=MeSH" title="MedGen record for Nutritional Hypophosphatemic Rickets">Nutritional Hypophosphatemic Rickets</a></span></li><li><span class="TLline"><a href="/medgen/1389570" ref="tree=MeSH" title="MedGen record for Nutritional Vitamin D Deficiency Rickets">Nutritional Vitamin D Deficiency Rickets</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1378008" ref="tree=MeSH" title="MedGen record for Vitamin D Dependent Rickets 2">Vitamin D Dependent Rickets 2</a></span></li><li><span class="TLline"><a href="/medgen/526251" ref="tree=MeSH" title="MedGen record for Vitamin D-dependent rickets">Vitamin D-dependent rickets</a></span></li><li><span class="TLline"><a href="/medgen/90989" ref="tree=MeSH" title="MedGen record for Vitamin D-dependent rickets type II with alopecia">Vitamin D-dependent rickets type II with alopecia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/374020" ref="tree=MeSH" title="MedGen record for Vitamin D hydroxylation-deficient rickets, type 1B">Vitamin D hydroxylation-deficient rickets, type 1B</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_325097"><div><strong>Eiken syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325097</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1838779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Eiken syndrome (EKNS) is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities. Type A1 brachydactyly (see 112500), supernumerary epiphyses of proximal phalanges and metacarpals, and failure of eruption of primary teeth have also been described. Defining radiologic features include delayed ossification of epiphyses and primary ossification centers of short tubular bones, modeling abnormalities of tubular bones, and angel-shaped phalanges (Jacob et al., 2019). See 603740 for a disorder with similar radiologic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325097">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395227"><div><strong>Celiac disease, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395227</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395227">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436451"><div><strong>Diamond-Blackfan anemia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436451</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2675512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436451">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_412874"><div><strong>Diamond-Blackfan anemia 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412874</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412874">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934591"><div><strong>Congenital bile acid synthesis defect 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934591</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital bile acid synthesis defect-6 (CBAS6) is characterized by persistent hypertransaminasemia and accumulation of C27 bile acids (summary by Alonso-Pena et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see CBAS1 (607765).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934591">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934711"><div><strong>Bone marrow failure syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934711</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310744</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016). BMFS3 has a distinct phenotype and may include features that overlap with Shwachman-Diamond syndrome (SDS1; 260400), such as pancreatic insufficiency and short stature, and with dyskeratosis congenita (see, e.g., DKCA1, 127550), such as dental and hair abnormalities and shortened telomeres. In addition, some patients may have joint and skeletal abnormalities, impaired development, and retinal dysplasia (summary by D'Amours et al., 2018). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934711">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1709627"><div><strong>Congenital disorder of glycosylation, type iit</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1709627</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5394387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorder of glycosylation type IIt (CDG2t) is an autosomal recessive multisystemic metabolic disorder characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities. Most patients develop early-onset seizures; brain imaging tends to show white matter abnormalities. Variable dysmorphic features, including long face, almond-shaped eyes, protruding maxilla, and short philtrum, are also present. The disorder, which is associated with low levels of HDL cholesterol, results from defective posttranslational O-linked glycosylation of certain plasma lipids and proteins (summary by Zilmer et al., 2020). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1709627">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1750003"><div><strong>Rajab interstitial lung disease with brain calcifications 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750003</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rajab interstitial lung disease with brain calcifications-1 (RILDBC1) is an autosomal recessive multisystem disorder with a highly variable phenotype. Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. Some may have early impaired motor development, but most have normal cognitive development (summary by Xu et al., 2018). Genetic Heterogeneity of Rajab Interstitial Lung Disease with Brain Calcifications Also see Rajab interstitial disease with brain calcifications-2 (RILDBC2; 619013), caused by mutation in the FARSA gene (602918).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1750003">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1780531"><div><strong>Hypercholanemia, familial, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780531</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5543243</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hypercholanemia-2 (FHCA2) is an autosomal recessive inborn error of metabolism characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy. Most patients are asymptomatic and have no liver dysfunction, although some neonates may have transient jaundice or transiently elevated liver enzymes. These abnormalities improve with age. The bile acid defect can result in impaired absorption of fat-soluble vitamins, including D and K, causing decreased bone mineral density or prolonged prothrobin time (PT) (summary by Deng et al., 2016 and Liu et al., 2017). For a discussion of genetic heterogeneity of FHCA, see FHCA1 (607748).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1780531">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794172"><div><strong>Bile acid malabsorption, primary, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794172</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5561962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary bile acid malabsorption-2 (PBAM2) is an autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease (Sultan et al., 2018). For discussion of genetic heterogeneity of primary bile acid malabsorption, see PBAM1 (613291).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794172">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823968"><div><strong>Liver disease, severe congenital</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823968</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823968">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794172" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bile acid malabsorption, primary, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone marrow failure syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Celiac disease, susceptibility to, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934591" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1709627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation, type iit</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412874" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eiken syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1780531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercholanemia, familial, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Liver disease, severe congenital</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rajab interstitial lung disease with brain calcifications 1</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34583869">Contribution of imaging to the diagnosis and follow up of X-linked hypophosphatemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adamsbaum C,
|
||
Laredo JD,
|
||
Briot K,
|
||
Linglart A</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr</span>
|
||
2021 Oct;28(7):594-598.
|
||
Epub 2021 Sep 26
|
||
doi: 10.1016/j.arcped.2021.09.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34583869" target="_blank">34583869</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19232159">1alpha(OH)D3 One-alpha-hydroxy-cholecalciferol--an active vitamin D analog. Clinical studies on prophylaxis and treatment of secondary hyperparathyroidism in uremic patients on chronic dialysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brandi L</span><br />
|
||
<span class="medgenPMjournal">Dan Med Bull</span>
|
||
2008 Nov;55(4):186-210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19232159" target="_blank">19232159</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16566961">Vitamin D: its role in cancer prevention and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holick MF</span><br />
|
||
<span class="medgenPMjournal">Prog Biophys Mol Biol</span>
|
||
2006 Sep;92(1):49-59.
|
||
Epub 2006 Mar 10
|
||
doi: 10.1016/j.pbiomolbio.2006.02.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16566961" target="_blank">16566961</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(decreased%20circulating%20vitamin%20d%20concentration)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (6)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38777417">Vitamin D and bone health: What vitamin D can and cannot do.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holick MF</span><br />
|
||
<span class="medgenPMjournal">Adv Food Nutr Res</span>
|
||
2024;109:43-66.
|
||
Epub 2024 May 16
|
||
doi: 10.1016/bs.afnr.2024.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38777417" target="_blank">38777417</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36368945">Effects of vitamin D supplementation on depression and some selected pro-inflammatory biomarkers: a double-blind randomized clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaviani M,
|
||
Nikooyeh B,
|
||
Etesam F,
|
||
Behnagh SJ,
|
||
Kangarani HM,
|
||
Arefi M,
|
||
Yaghmaei P,
|
||
Neyestani TR</span><br />
|
||
<span class="medgenPMjournal">BMC Psychiatry</span>
|
||
2022 Nov 11;22(1):694.
|
||
doi: 10.1186/s12888-022-04305-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36368945" target="_blank">36368945</a><a href="/pmc/articles/PMC9651884" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33732250">Association Between Vitamin D Exposure and Head and Neck Cancer: A Systematic Review With Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pu Y,
|
||
Zhu G,
|
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Xu Y,
|
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Zheng S,
|
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Tang B,
|
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Huang H,
|
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Wu IXY,
|
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Huang D,
|
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Liu Y,
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Zhang X</span><br />
|
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<span class="medgenPMjournal">Front Immunol</span>
|
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2021;12:627226.
|
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Epub 2021 Feb 23
|
||
doi: 10.3389/fimmu.2021.627226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33732250" target="_blank">33732250</a><a href="/pmc/articles/PMC7959800" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29089348">Circulating vitamin D concentration and risk of seven cancers: Mendelian randomisation study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dimitrakopoulou VI,
|
||
Tsilidis KK,
|
||
Haycock PC,
|
||
Dimou NL,
|
||
Al-Dabhani K,
|
||
Martin RM,
|
||
Lewis SJ,
|
||
Gunter MJ,
|
||
Mondul A,
|
||
Shui IM,
|
||
Theodoratou E,
|
||
Nimptsch K,
|
||
Lindström S,
|
||
Albanes D,
|
||
Kühn T,
|
||
Key TJ,
|
||
Travis RC,
|
||
Vimaleswaran KS;
|
||
GECCO Consortium;
|
||
PRACTICAL Consortium;
|
||
GAME-ON Network (CORECT, DRIVE, ELLIPSE, FOCI-OCAC, TRICL-ILCCO),
|
||
Kraft P,
|
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Pierce BL,
|
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Schildkraut JM</span><br />
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<span class="medgenPMjournal">BMJ</span>
|
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2017 Oct 31;359:j4761.
|
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doi: 10.1136/bmj.j4761.
|
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<span class="bold">PMID: </span><a href="/pubmed/29089348" target="_blank">29089348</a><a href="/pmc/articles/PMC5666592" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/28507011">Influence of Diet in Multiple Sclerosis: A Systematic Review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bagur MJ,
|
||
Murcia MA,
|
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Jiménez-Monreal AM,
|
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Tur JA,
|
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Bibiloni MM,
|
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Alonso GL,
|
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Martínez-Tomé M</span><br />
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<span class="medgenPMjournal">Adv Nutr</span>
|
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2017 May;8(3):463-472.
|
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Epub 2017 May 15
|
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doi: 10.3945/an.116.014191.
|
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<span class="bold">PMID: </span><a href="/pubmed/28507011" target="_blank">28507011</a><a href="/pmc/articles/PMC5421121" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20circulating%20vitamin%20D%20concentration%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (211)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/37414665">Causality assessment of circulating Vitamin D level on venous thromboembolism: A Mendelian randomization study.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang X,
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Sun W,
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Li N,
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Jian X,
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Geng T,
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Wu L,
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Wang Y,
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Wang B,
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Zheng D</span><br />
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<span class="medgenPMjournal">Nutr Metab Cardiovasc Dis</span>
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2023 Sep;33(9):1800-1807.
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Epub 2023 May 19
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doi: 10.1016/j.numecd.2023.05.019.
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<span class="bold">PMID: </span><a href="/pubmed/37414665" target="_blank">37414665</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/37391133">Decreased levels of perfluoroalkyl substances in patients receiving hemodialysis treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Huang JK,
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Chuang YS,
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Wu PH,
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Tai CJ,
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Lin JR,
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Kuo MC,
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Chiu YW,
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Hsu PC,
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Wu MT,
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Salihovic S,
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Lin YT</span><br />
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<span class="medgenPMjournal">Sci Total Environ</span>
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2023 Oct 20;896:165184.
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Epub 2023 Jun 28
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doi: 10.1016/j.scitotenv.2023.165184.
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<span class="bold">PMID: </span><a href="/pubmed/37391133" target="_blank">37391133</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36368945">Effects of vitamin D supplementation on depression and some selected pro-inflammatory biomarkers: a double-blind randomized clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaviani M,
|
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Nikooyeh B,
|
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Etesam F,
|
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Behnagh SJ,
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Kangarani HM,
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Arefi M,
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Yaghmaei P,
|
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Neyestani TR</span><br />
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<span class="medgenPMjournal">BMC Psychiatry</span>
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2022 Nov 11;22(1):694.
|
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doi: 10.1186/s12888-022-04305-3.
|
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<span class="bold">PMID: </span><a href="/pubmed/36368945" target="_blank">36368945</a><a href="/pmc/articles/PMC9651884" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/27414487">Inflammation, vitamin D and dendritic cell precursors in chronic kidney disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Paul K,
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Franke S,
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Nadal J,
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Schmid M,
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Yilmaz A,
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Kretzschmar D,
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Bärthlein B,
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Titze S,
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Koettgen A,
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Wolf G,
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Busch M;
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GCKD study group</span><br />
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<span class="medgenPMjournal">Clin Exp Immunol</span>
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2016 Oct;186(1):86-95.
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<span class="bold">PMID: </span><a href="/pubmed/27414487" target="_blank">27414487</a><a href="/pmc/articles/PMC5011369" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/25243756">The future of phosphate binders: a perspective on novel therapeutics.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cernaro V,
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Santoro D,
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Lucisano S,
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Nicocia G,
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Lacquaniti A,
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<span class="bold">PMID: </span><a href="/pubmed/25243756" target="_blank">25243756</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20circulating%20vitamin%20D%20concentration%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (81)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36368945">Effects of vitamin D supplementation on depression and some selected pro-inflammatory biomarkers: a double-blind randomized clinical trial.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaviani M,
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Nikooyeh B,
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Etesam F,
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Behnagh SJ,
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Kangarani HM,
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Arefi M,
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Yaghmaei P,
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Neyestani TR</span><br />
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<span class="medgenPMjournal">BMC Psychiatry</span>
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2022 Nov 11;22(1):694.
|
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doi: 10.1186/s12888-022-04305-3.
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<span class="bold">PMID: </span><a href="/pubmed/36368945" target="_blank">36368945</a><a href="/pmc/articles/PMC9651884" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33732250">Association Between Vitamin D Exposure and Head and Neck Cancer: A Systematic Review With Meta-Analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Pu Y,
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Zhu G,
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Xu Y,
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Zheng S,
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Tang B,
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Huang H,
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Wu IXY,
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Huang D,
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Liu Y,
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Zhang X</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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2021;12:627226.
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Epub 2021 Feb 23
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doi: 10.3389/fimmu.2021.627226.
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<span class="bold">PMID: </span><a href="/pubmed/33732250" target="_blank">33732250</a><a href="/pmc/articles/PMC7959800" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29089348">Circulating vitamin D concentration and risk of seven cancers: Mendelian randomisation study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dimitrakopoulou VI,
|
||
Tsilidis KK,
|
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Haycock PC,
|
||
Dimou NL,
|
||
Al-Dabhani K,
|
||
Martin RM,
|
||
Lewis SJ,
|
||
Gunter MJ,
|
||
Mondul A,
|
||
Shui IM,
|
||
Theodoratou E,
|
||
Nimptsch K,
|
||
Lindström S,
|
||
Albanes D,
|
||
Kühn T,
|
||
Key TJ,
|
||
Travis RC,
|
||
Vimaleswaran KS;
|
||
GECCO Consortium;
|
||
PRACTICAL Consortium;
|
||
GAME-ON Network (CORECT, DRIVE, ELLIPSE, FOCI-OCAC, TRICL-ILCCO),
|
||
Kraft P,
|
||
Pierce BL,
|
||
Schildkraut JM</span><br />
|
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<span class="medgenPMjournal">BMJ</span>
|
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2017 Oct 31;359:j4761.
|
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doi: 10.1136/bmj.j4761.
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||
<span class="bold">PMID: </span><a href="/pubmed/29089348" target="_blank">29089348</a><a href="/pmc/articles/PMC5666592" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28507011">Influence of Diet in Multiple Sclerosis: A Systematic Review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bagur MJ,
|
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Murcia MA,
|
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Jiménez-Monreal AM,
|
||
Tur JA,
|
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Bibiloni MM,
|
||
Alonso GL,
|
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Martínez-Tomé M</span><br />
|
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<span class="medgenPMjournal">Adv Nutr</span>
|
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2017 May;8(3):463-472.
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Epub 2017 May 15
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doi: 10.3945/an.116.014191.
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<span class="bold">PMID: </span><a href="/pubmed/28507011" target="_blank">28507011</a><a href="/pmc/articles/PMC5421121" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/1338454">Renal osteodystrophy and vitamin D derivatives: cellular mechanisms of hyperparathyroidism in uremia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fukagawa M,
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Kurokawa K</span><br />
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<span class="medgenPMjournal">J Nutr Sci Vitaminol (Tokyo)</span>
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1992;Spec No:96-9.
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<span class="bold">PMID: </span><a href="/pubmed/1338454" target="_blank">1338454</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20circulating%20vitamin%20D%20concentration%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (157)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33732250">Association Between Vitamin D Exposure and Head and Neck Cancer: A Systematic Review With Meta-Analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pu Y,
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Zhu G,
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Xu Y,
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Zheng S,
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Tang B,
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Huang H,
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Wu IXY,
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Huang D,
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Liu Y,
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Zhang X</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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2021;12:627226.
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Epub 2021 Feb 23
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doi: 10.3389/fimmu.2021.627226.
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<span class="bold">PMID: </span><a href="/pubmed/33732250" target="_blank">33732250</a><a href="/pmc/articles/PMC7959800" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/32188599">Genetic Predictors of Circulating 25-Hydroxyvitamin D and Prognosis after Colorectal Cancer.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Neumeyer S,
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Butterbach K,
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Banbury BL,
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Berndt SI,
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Campbell PT,
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Chlebowski RT,
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Chan AT,
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Giovannucci EL,
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Joshi AD,
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Ogino S,
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Song M,
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McCullough ML,
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Maalmi H,
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Manson JE,
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Sakoda LC,
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Schoen RE,
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Slattery ML,
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White E,
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Win AK,
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Figueiredo JC,
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Hopper JL,
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Macrae FA,
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Peters U,
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Brenner H,
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<span class="bold">PMID: </span><a href="/pubmed/32188599" target="_blank">32188599</a><a href="/pmc/articles/PMC7269850" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/29089348">Circulating vitamin D concentration and risk of seven cancers: Mendelian randomisation study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dimitrakopoulou VI,
|
||
Tsilidis KK,
|
||
Haycock PC,
|
||
Dimou NL,
|
||
Al-Dabhani K,
|
||
Martin RM,
|
||
Lewis SJ,
|
||
Gunter MJ,
|
||
Mondul A,
|
||
Shui IM,
|
||
Theodoratou E,
|
||
Nimptsch K,
|
||
Lindström S,
|
||
Albanes D,
|
||
Kühn T,
|
||
Key TJ,
|
||
Travis RC,
|
||
Vimaleswaran KS;
|
||
GECCO Consortium;
|
||
PRACTICAL Consortium;
|
||
GAME-ON Network (CORECT, DRIVE, ELLIPSE, FOCI-OCAC, TRICL-ILCCO),
|
||
Kraft P,
|
||
Pierce BL,
|
||
Schildkraut JM</span><br />
|
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<span class="medgenPMjournal">BMJ</span>
|
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2017 Oct 31;359:j4761.
|
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doi: 10.1136/bmj.j4761.
|
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<span class="bold">PMID: </span><a href="/pubmed/29089348" target="_blank">29089348</a><a href="/pmc/articles/PMC5666592" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/24214881">Vitamin D-binding protein, circulating vitamin D and risk of renal cell carcinoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mondul AM,
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Weinstein SJ,
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Moy KA,
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Männistö S,
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Albanes D</span><br />
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<span class="medgenPMjournal">Int J Cancer</span>
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2014 Jun 1;134(11):2699-706.
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<span class="bold">PMID: </span><a href="/pubmed/24214881" target="_blank">24214881</a><a href="/pmc/articles/PMC3960365" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/23149428">Circulating 25-hydroxy-vitamin D and risk of cardiovascular disease: a meta-analysis of prospective studies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang L,
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Song Y,
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Manson JE,
|
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Pilz S,
|
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März W,
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Michaëlsson K,
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Lundqvist A,
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Jassal SK,
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Barrett-Connor E,
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Zhang C,
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Eaton CB,
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May HT,
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Anderson JL,
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Sesso HD</span><br />
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<span class="medgenPMjournal">Circ Cardiovasc Qual Outcomes</span>
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<span class="bold">PMID: </span><a href="/pubmed/23149428" target="_blank">23149428</a><a href="/pmc/articles/PMC3510675" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20circulating%20vitamin%20D%20concentration%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (74)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38777417">Vitamin D and bone health: What vitamin D can and cannot do.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Holick MF</span><br />
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<span class="medgenPMjournal">Adv Food Nutr Res</span>
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2024;109:43-66.
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Epub 2024 May 16
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|
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<span class="bold">PMID: </span><a href="/pubmed/38777417" target="_blank">38777417</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36368945">Effects of vitamin D supplementation on depression and some selected pro-inflammatory biomarkers: a double-blind randomized clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaviani M,
|
||
Nikooyeh B,
|
||
Etesam F,
|
||
Behnagh SJ,
|
||
Kangarani HM,
|
||
Arefi M,
|
||
Yaghmaei P,
|
||
Neyestani TR</span><br />
|
||
<span class="medgenPMjournal">BMC Psychiatry</span>
|
||
2022 Nov 11;22(1):694.
|
||
doi: 10.1186/s12888-022-04305-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36368945" target="_blank">36368945</a><a href="/pmc/articles/PMC9651884" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33732250">Association Between Vitamin D Exposure and Head and Neck Cancer: A Systematic Review With Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pu Y,
|
||
Zhu G,
|
||
Xu Y,
|
||
Zheng S,
|
||
Tang B,
|
||
Huang H,
|
||
Wu IXY,
|
||
Huang D,
|
||
Liu Y,
|
||
Zhang X</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:627226.
|
||
Epub 2021 Feb 23
|
||
doi: 10.3389/fimmu.2021.627226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33732250" target="_blank">33732250</a><a href="/pmc/articles/PMC7959800" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29089348">Circulating vitamin D concentration and risk of seven cancers: Mendelian randomisation study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dimitrakopoulou VI,
|
||
Tsilidis KK,
|
||
Haycock PC,
|
||
Dimou NL,
|
||
Al-Dabhani K,
|
||
Martin RM,
|
||
Lewis SJ,
|
||
Gunter MJ,
|
||
Mondul A,
|
||
Shui IM,
|
||
Theodoratou E,
|
||
Nimptsch K,
|
||
Lindström S,
|
||
Albanes D,
|
||
Kühn T,
|
||
Key TJ,
|
||
Travis RC,
|
||
Vimaleswaran KS;
|
||
GECCO Consortium;
|
||
PRACTICAL Consortium;
|
||
GAME-ON Network (CORECT, DRIVE, ELLIPSE, FOCI-OCAC, TRICL-ILCCO),
|
||
Kraft P,
|
||
Pierce BL,
|
||
Schildkraut JM</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2017 Oct 31;359:j4761.
|
||
doi: 10.1136/bmj.j4761.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29089348" target="_blank">29089348</a><a href="/pmc/articles/PMC5666592" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28507011">Influence of Diet in Multiple Sclerosis: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bagur MJ,
|
||
Murcia MA,
|
||
Jiménez-Monreal AM,
|
||
Tur JA,
|
||
Bibiloni MM,
|
||
Alonso GL,
|
||
Martínez-Tomé M</span><br />
|
||
<span class="medgenPMjournal">Adv Nutr</span>
|
||
2017 May;8(3):463-472.
|
||
Epub 2017 May 15
|
||
doi: 10.3945/an.116.014191.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28507011" target="_blank">28507011</a><a href="/pmc/articles/PMC5421121" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20circulating%20vitamin%20D%20concentration%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (156)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/34231300">Circulating serum vitamin D levels in relation to metabolic syndrome in children: A systematic review and dose-response meta-analysis of epidemiologic studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rouhani P,
|
||
Hajhashemy Z,
|
||
Saneei P</span><br />
|
||
<span class="medgenPMjournal">Obes Rev</span>
|
||
2021 Nov;22(11):e13314.
|
||
Epub 2021 Jul 6
|
||
doi: 10.1111/obr.13314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34231300" target="_blank">34231300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33732250">Association Between Vitamin D Exposure and Head and Neck Cancer: A Systematic Review With Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pu Y,
|
||
Zhu G,
|
||
Xu Y,
|
||
Zheng S,
|
||
Tang B,
|
||
Huang H,
|
||
Wu IXY,
|
||
Huang D,
|
||
Liu Y,
|
||
Zhang X</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:627226.
|
||
Epub 2021 Feb 23
|
||
doi: 10.3389/fimmu.2021.627226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33732250" target="_blank">33732250</a><a href="/pmc/articles/PMC7959800" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28507011">Influence of Diet in Multiple Sclerosis: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bagur MJ,
|
||
Murcia MA,
|
||
Jiménez-Monreal AM,
|
||
Tur JA,
|
||
Bibiloni MM,
|
||
Alonso GL,
|
||
Martínez-Tomé M</span><br />
|
||
<span class="medgenPMjournal">Adv Nutr</span>
|
||
2017 May;8(3):463-472.
|
||
Epub 2017 May 15
|
||
doi: 10.3945/an.116.014191.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28507011" target="_blank">28507011</a><a href="/pmc/articles/PMC5421121" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24032365">Clinical outcomes of vitamin D deficiency and supplementation in cancer patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teleni L,
|
||
Baker J,
|
||
Koczwara B,
|
||
Kimlin MG,
|
||
Walpole E,
|
||
Tsai K,
|
||
Isenring EA</span><br />
|
||
<span class="medgenPMjournal">Nutr Rev</span>
|
||
2013 Sep;71(9):611-21.
|
||
Epub 2013 Aug 15
|
||
doi: 10.1111/nure.12047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24032365" target="_blank">24032365</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22961293">Circulating vitamin D, calcium and risk of cerebrovascular disease: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chowdhury R,
|
||
Stevens S,
|
||
Ward H,
|
||
Chowdhury S,
|
||
Sajjad A,
|
||
Franco OH</span><br />
|
||
<span class="medgenPMjournal">Eur J Epidemiol</span>
|
||
2012 Aug;27(8):581-91.
|
||
Epub 2012 Sep 9
|
||
doi: 10.1007/s10654-012-9729-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22961293" target="_blank">22961293</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20circulating%20vitamin%20D%20concentration%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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|
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|
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|
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|
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|
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|
||
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(decreased%20circulating%20vitamin%20d%20concentration)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Decreased%20circulating%20vitamin%20D%20concentration%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="ralinkpop offscreen_noflow">C1843392[trait identifier] AND "Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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