FLAD1 , encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts-Reference-Cited by-同舟云学术

FLAD1 , encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

Published:2018-11-14 Issue:6 Volume:94 Page:592-593
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

García‐Villoria Judit¹²,De Azua Begoña³,Tort Frederic¹²,Mosegaard Signe⁴,Ugarteburu Olatz¹²,Texidó Laura¹²,Morales‐Romero Blai¹,Olsen Rikke K.J.⁴,Ribes Antonia¹²^ORCID

Affiliation:

1. Secció Errors Congènits del Metabolisme‐IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS Barcelona Spain

2. CIBERER Barcelona Spain

3. Servicio de PediatríaHospital Son Llàtzer Mallorca Spain

4. Research Unit for Molecular Medicine, Department for Clinical MedicineAarhus University Aarhus Denmark

Funder

Instituto de Salud Carlos III

Agència de Gestió d’Ajuts Universitaris i de Recerca

Generalitat de Catalunya

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13452

Reference3 articles.

1. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

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

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

Cited by 9 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. 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

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

3. Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2;Free Radical Research;2022-08-03

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

5. Mimicking human riboflavin responsive neuromuscular disorders by silencing flad‐1 gene in C. elegans : Alteration of vitamin transport and cholinergic transmission;IUBMB Life;2021-09-24