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Trypsinogen deficiency

MedGen UID:
450540
Concept ID:
C0268417
Disease or Syndrome
Synonym: TRYPSINOGEN DEFICIENCY
SNOMED CT: Trypsinogen deficiency (190953007)
 
Monarch Initiative: MONDO:0013543
OMIM®: 614044

Professional guidelines

PubMed

Farrell PM
Mol Genet Metab 2023 Sep-Oct;140(1-2):107679. Epub 2023 Aug 6 doi: 10.1016/j.ymgme.2023.107679. PMID: 37573205
Moskowitz SM, Chmiel JF, Sternen DL, Cheng E, Gibson RL, Marshall SG, Cutting GR
Genet Med 2008 Dec;10(12):851-68. doi: 10.1097/GIM.0b013e31818e55a2. PMID: 19092437Free PMC Article
Sermet-Gaudelus I, Roussel D, Bui S, Deneuville E, Huet F, Reix P, Bellon G, Lenoir G, Edelman A
BMC Pediatr 2006 Oct 3;6:25. doi: 10.1186/1471-2431-6-25. PMID: 17018149Free PMC Article

Recent clinical studies

Diagnosis

Naruse S, Kitagawa M, Ishiguro H
Mol Med Today 1999 Nov;5(11):493-9. doi: 10.1016/s1357-4310(99)01595-6. PMID: 10529791
Lebenthal E, Shwachman H
Clin Gastroenterol 1977 May;6(2):397-413. PMID: 884885
Morris MD, Fisher DA
Am J Dis Child 1967 Aug;114(2):203-8. doi: 10.1001/archpedi.1967.02090230133019. PMID: 5006445
TOWNES PL
J Pediatr 1965 Feb;66:275-85. doi: 10.1016/s0022-3476(65)80184-6. PMID: 14258916

Therapy

Hadorn B
Med Clin North Am 1974 Nov;58(6):1319-31. doi: 10.1016/s0025-7125(16)32074-0. PMID: 4610296
Morris MD, Fisher DA
Am J Dis Child 1967 Aug;114(2):203-8. doi: 10.1001/archpedi.1967.02090230133019. PMID: 5006445

Clinical prediction guides

Abu-El-Haija M
J Pediatr 2017 Aug;187:42. doi: 10.1016/j.jpeds.2017.02.034. PMID: 28750766

Supplemental Content

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    Clinical resources

    Practice guidelines

    • PubMed
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    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

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