Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain
- PMID: 12205126
- PMCID: PMC1735221
- DOI: 10.1136/jmg.39.9.e56
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain
Similar articles
-
Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.J Med Genet. 1996 Sep;33(9):786-8. doi: 10.1136/jmg.33.9.786. J Med Genet. 1996. PMID: 8880583 Free PMC article.
-
Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.Cell. 1988 Jun 17;53(6):881-5. doi: 10.1016/s0092-8674(88)90349-2. Cell. 1988. PMID: 3383242
-
Identification of a novel mutation (Leu256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance.Hum Mol Genet. 1994 Apr;3(4):684. Hum Mol Genet. 1994. PMID: 8069328 No abstract available.
-
The biochemical basis of hereditary fructose intolerance.J Inherit Metab Dis. 2010 Apr;33(2):105-12. doi: 10.1007/s10545-010-9053-2. Epub 2010 Feb 17. J Inherit Metab Dis. 2010. PMID: 20162364 Review.
-
Aldolase B and fructose intolerance.FASEB J. 1994 Jan;8(1):62-71. doi: 10.1096/fasebj.8.1.8299892. FASEB J. 1994. PMID: 8299892 Review.
Cited by
-
Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.J Clin Med. 2021 Jun 30;10(13):2932. doi: 10.3390/jcm10132932. J Clin Med. 2021. PMID: 34208868 Free PMC article.
-
Development of tools to facilitate the diagnosis of hereditary fructose intolerance.JIMD Rep. 2023 Jul 27;64(5):353-359. doi: 10.1002/jmd2.12379. eCollection 2023 Sep. JIMD Rep. 2023. PMID: 37701328 Free PMC article.
-
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.J Inherit Metab Dis. 2010 Feb;33(1):33-42. doi: 10.1007/s10545-009-9008-7. Epub 2009 Dec 23. J Inherit Metab Dis. 2010. PMID: 20033295 Free PMC article.
-
Secondary disorders of glycosylation in inborn errors of fructose metabolism.J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S273-8. doi: 10.1007/s10545-009-1219-4. Epub 2009 Sep 20. J Inherit Metab Dis. 2009. PMID: 19768653
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Molecular Biology Databases