Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy-Reference-Cited by-同舟云学术

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Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy

Published:2018-09 Issue:9 Volume:28 Page:787-790
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Yıldız Yılmaz,Olsen Rikke Katrine Jentoft,Sivri Hatice Serap,Akçören Zuhal,Nygaard Helle Highland,Tokatlı Ayşegül

Publisher

Elsevier BV

Subject

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

Reference14 articles.

1. Riboflavin transport and metabolism in humans;Barile;J Inherit Metab Dis,2016

2. Electron transfer flavoprotein deficiency: functional and molecular aspects;Schiff;Mol Genet Metab,2006

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

4. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54;Green;Am J Hum Genet,2010

5. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome;Haack;J Inherit Metab Dis,2012

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

2. 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

3. Detection of FLAD1 mutations and lipid storage myopathy in a 5-year-old boy: a case report study;Annals of Medicine & Surgery;2023-04-18

4. A Comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene;2022-12-16

5. Disorders of Riboflavin Metabolism;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022

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