Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
SC Grünert - Orphanet journal of rare diseases, 2014 - Springer
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal
recessive disorder caused by deficiency of electron transfer flavoprotein or electron transfer …
recessive disorder caused by deficiency of electron transfer flavoprotein or electron transfer …
[HTML][HTML] Multiple acyl-CoA dehydrogenase deficiency
P Prasun - 2020 - europepmc.org
Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in
which presentations can be divided into type I (neonatal onset with congenital anomalies) …
which presentations can be divided into type I (neonatal onset with congenital anomalies) …
Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common …
ZQ Wang, XJ Chen, SX Murong, N Wang… - Journal of Molecular …, 2011 - Springer
Multiple acyl-CoA dehydrogenation deficiency (MADD) is an autosomal recessive disease
affecting amino acid, fatty acid, and choline metabolisms and is a common genetic defect …
affecting amino acid, fatty acid, and choline metabolisms and is a common genetic defect …
Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients
M Zhu, X Zhu, X Qi, D Weijiang, Y Yu, H Wan… - Journal of human …, 2014 - nature.com
Abstract Multiple Acyl-CoA dehydrogenation deficiency (MADD) is an autosomal recessive
disorder of fatty acid oxidation and amino-acid metabolism. Most patients with late-onset …
disorder of fatty acid oxidation and amino-acid metabolism. Most patients with late-onset …
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency
J Xi, B Wen, J Lin, W Zhu, S Luo, C Zhao, D Li… - Journal of inherited …, 2014 - Springer
The major cause of lipid storage myopathies (LSM) in China is multiple acyl-CoA
dehydrogenase deficiency (MADD) caused by ETFDH mutations. We here present an …
dehydrogenase deficiency (MADD) caused by ETFDH mutations. We here present an …
Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
TF Lang - Journal of inherited metabolic disease, 2009 - Springer
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive
disorder of mitochondrial fatty acid oxidation which is usually diagnosed in infancy or …
disorder of mitochondrial fatty acid oxidation which is usually diagnosed in infancy or …
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl‐CoA dehydrogenation deficiency
RKJ Olsen, BS Andresen, E Christensen… - Human …, 2003 - Wiley Online Library
Mutations in electron transfer flavoprotein (ETF) and its dehydrogenase (ETFDH) are the
molecular basis of multiple acyl‐CoA dehydrogenation deficiency (MADD), an autosomal …
molecular basis of multiple acyl‐CoA dehydrogenation deficiency (MADD), an autosomal …
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
LK Law, NLS Tang, J Hui, SLM Fung, J Ruiter… - Clinica chimica acta, 2009 - Elsevier
BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) or
glutaric aciduria type II (GAII) is an inherited autosomal recessive disease affecting fatty acid …
glutaric aciduria type II (GAII) is an inherited autosomal recessive disease affecting fatty acid …
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome
TGJ Derks, DJ Reijngoud, HR Waterham… - The Journal of …, 2006 - Elsevier
OBJECTIVES: To describe the clinical presentation and long-term follow-up of a large cohort
of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. STUDY …
of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. STUDY …
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population
UA Schatz, R Ensenauer - Journal of inherited metabolic disease, 2010 - Springer
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common fatty acid
oxidation disorder. Typically, undiagnosed individuals are asymptomatic until an episode of …
oxidation disorder. Typically, undiagnosed individuals are asymptomatic until an episode of …