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Quoted phrase not found in phrase index: "Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type"
Page 1
Follow-up of fatty acid beta-oxidation disorders in expanded newborn screening era.
Janeiro P, Jotta R, Ramos R, Florindo C, Ventura FV, Vilarinho L, Tavares de Almeida I, Gaspar A. Janeiro P, et al. Eur J Pediatr. 2019 Mar;178(3):387-394. doi: 10.1007/s00431-018-03315-2. Epub 2019 Jan 7. Eur J Pediatr. 2019. PMID: 30617651
Eighty-three clinical charts, including 66 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 5 carnitine-uptake deficiency (CUD), 3 carnitine palmitoyltransferase I and II (CPT I/II) deficiency, 5 very long-chain acyl-CoA …
Eighty-three clinical charts, including 66 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 5 carnitine-u …
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
van der Westhuizen FH, Smuts I, Honey E, Louw R, Schoonen M, Jonck LM, Dercksen M. van der Westhuizen FH, et al. J Neurol Sci. 2018 Jan 15;384:121-125. doi: 10.1016/j.jns.2017.11.012. Epub 2017 Nov 15. J Neurol Sci. 2018. PMID: 29249369
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD type I) is an autosomal recessive disorder of the electron transfer flavoprotein function characterized by a severe clinical and biochemical phenotype, includin …
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD type I) is an autosomal rec …
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Yotsumoto Y, Hasegawa Y, Fukuda S, Kobayashi H, Endo M, Fukao T, Yamaguchi S. Yotsumoto Y, et al. Mol Genet Metab. 2008 May;94(1):61-7. doi: 10.1016/j.ymgme.2008.01.002. Epub 2008 Mar 4. Mol Genet Metab. 2008. PMID: 18289905
Glutaric acidemia type 2 (GA2) is an autosomal recessive disorder resulting from a deficiency of electron transfer flavoprotein (ETF) or ETF dehydrogenase (ETFDH) that manifests from most severe neonatal to late-onset forms. ...Immunoblot analys …
Glutaric acidemia type 2 (GA2) is an autosomal recessive disorder resulting from a deficiency of electron transfer flavoprotei …
The presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice.
Liu J, Ni W, Deng K, Chen Y, Gu G. Liu J, et al. Clin Biochem. 2024 Mar;125:110735. doi: 10.1016/j.clinbiochem.2024.110735. Epub 2024 Feb 22. Clin Biochem. 2024. PMID: 38401771
BACKGROUND: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), also known as Glutaric Aciduria Type II, is an exceptionally rare autosomal recessive genetic disorder that disrupts the metabolism of fatty acids, amino acids, and choline. I …
BACKGROUND: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), also known as Glutaric Aciduria Type …
Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay.
Yamada K, Kobayashi H, Bo R, Purevsuren J, Mushimoto Y, Takahashi T, Hasegawa Y, Taketani T, Fukuda S, Yamaguchi S. Yamada K, et al. Brain Dev. 2017 Jan;39(1):48-57. doi: 10.1016/j.braindev.2016.08.004. Epub 2016 Aug 30. Brain Dev. 2017. PMID: 27591119
INTRODUCTION: We evaluated the effects of bezafibrate (BEZ) on beta-oxidation in fibroblasts obtained from patients with glutaric acidemia type II (GA2) of various clinical severities using an in vitro probe (IVP) assay. METHODS: Cultured fibroblasts from 12 patient …
INTRODUCTION: We evaluated the effects of bezafibrate (BEZ) on beta-oxidation in fibroblasts obtained from patients with glutaric acidemia …
In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2.
Endo M, Hasegawa Y, Fukuda S, Kobayashi H, Yotsumoto Y, Mushimoto Y, Li H, Purevsuren J, Yamaguchi S. Endo M, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2010 Jun 15;878(20):1673-6. doi: 10.1016/j.jchromb.2010.03.029. Epub 2010 Mar 20. J Chromatogr B Analyt Technol Biomed Life Sci. 2010. PMID: 20392676
Glutaric aciduria type 2 (multiple acyl-CoA dehydrogenase deficiency, MAD) is a multiple defect of mitochondrial acyl-CoA dehydrogenases due to a deficiency of electron transfer flavoprotein (ETF) or ETF deh …
Glutaric aciduria type 2 (multiple acyl-CoA dehydrogenase deficiency, MAD) is a multiple de …