Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- PMID: 7564259
- DOI: 10.1007/BF00711779
Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Similar articles
-
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.J Inherit Metab Dis. 1995;18(2):241-4. doi: 10.1007/BF00711778. J Inherit Metab Dis. 1995. PMID: 7564258 No abstract available.
-
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.Mol Genet Metab. 2006 Jan;87(1):40-7. doi: 10.1016/j.ymgme.2005.09.018. Epub 2005 Nov 16. Mol Genet Metab. 2006. PMID: 16297647
-
beta-Oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria.Pediatr Res. 1994 Jul;36(1 Pt 1):111-4. doi: 10.1203/00006450-199407001-00020. Pediatr Res. 1994. PMID: 7936829 Clinical Trial.
-
[Mass Screening for Inborn Errors of Metabolism].Rinsho Byori. 2015 Apr;63(4):441-9. Rinsho Byori. 2015. PMID: 26536777 Review. Japanese.
-
Peroxisomal beta-oxidation: enzymology and molecular biology.Ann N Y Acad Sci. 1996 Dec 27;804:86-98. doi: 10.1111/j.1749-6632.1996.tb18610.x. Ann N Y Acad Sci. 1996. PMID: 8993538 Review. No abstract available.
Cited by
-
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.J Inherit Metab Dis. 1999 Oct;22(7):811-4. doi: 10.1023/a:1005506024055. J Inherit Metab Dis. 1999. PMID: 10518281
-
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.JIMD Rep. 2012;2:79-85. doi: 10.1007/8904_2011_51. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430857 Free PMC article.
-
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.J Inherit Metab Dis. 2011 Feb;34(1):185-95. doi: 10.1007/s10545-010-9244-x. Epub 2010 Nov 20. J Inherit Metab Dis. 2011. PMID: 21103935
-
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.JIMD Rep. 2013;8:81-90. doi: 10.1007/8904_2012_164. Epub 2012 Jul 6. JIMD Rep. 2013. PMID: 23430524 Free PMC article.
-
Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies.Biosci Rep. 2015 Nov 20;36(1):e00281. doi: 10.1042/BSR20150240. Biosci Rep. 2015. PMID: 26589966 Free PMC article. Review.
References
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical