Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy-Reference-Cited by-同舟云学术

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Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy

Published:2017-06 Issue:6 Volume:27 Page:581-584
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Auranen M.,Paetau A.,Piirilä P.,Pohju A.,Salmi T.,Lamminen A.,Löfberg M.,Mosegaard S.,Olsen R.K.,Tyni T.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference12 articles.

1. Recurrent hypoglycemia associated with glutaric aciduria type II in an adult;Dusheiko;N Engl J Med,1979

2. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency;Grünert;Orphanet J Rare Dis,2014

3. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency;Olsen;Brain,2007

4. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment;Bosch;J Inherit Metab Dis,2011

5. SLC25A32 mutations and riboflavin-responsive exercise intolerance;Schiff;N Engl J Med,2016

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Multiple acyl‐Coa dehydrogenase deficiency: an underdiagnosed disorder in adults;Internal Medicine Journal;2024-08-12

2. Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia;Molecular Genetics and Metabolism;2024-08

3. Revitalising Riboflavin: Unveiling Its Timeless Significance in Human Physiology and Health;Foods;2024-07-17

4. A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene;Journal of Human Genetics;2024-01-17

5. Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort;Journal of Clinical Neurology;2024

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