Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia-Reference-Cited by-同舟云学术

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Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia

Published:2024-08 Issue:4 Volume:142 Page:108516
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Demetriou Kalliope,Nisbet Janelle,Coman David,Ewing Adam D.,Phillips Liza,Smith Sally,Lipke Michelle,Inwood Anita,Spicer Janette,Atthow Catherine,Wilgen Urs,Robertson Thomas,McWhinney Avis,Swenson Rebecca,Espley Brayden,Snowdon Brianna,McGill James J.,Summers Kim M.

Publisher

Elsevier BV

Reference84 articles.

1. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency;Olsen;Hum. Mutat.,2003

2. Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II;Rosenbohm;Muscle Nerve,2014

3. An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency;Mosegaard;Mol. Genet. Metab.,2017

4. Glutaric aciduria type 2, late onset type in Thai siblings with myopathy;Wasant;Pediatr. Neurol.,2010

5. Multiple acyl-coenzyme a dehydrogenation disorder responsive to riboflavin: substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts;Rhead;Pediatr. Res.,1993

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