FLAD1 ‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening-Reference-Cited by-同舟云学术

FLAD1 ‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

Published:2019-08-08 Issue:9 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Muru Kai¹²,Reinson Karit¹²^ORCID,Künnapas Kadi¹,Lilleväli Hardo¹³,Nochi Zahra⁴,Mosegaard Signe⁴,Pajusalu Sander¹²⁵^ORCID,Olsen Rikke K. J.⁴,Õunap Katrin¹²^ORCID

Affiliation:

1. Department of Clinical Genetics, United Laboratories Tartu University Hospital Tartu Estonia

2. Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu Tartu Estonia

3. Institute of Biomedicine and Translational Medicine University of Tartu Tartu Estonia

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

5. Department of Genetics Yale University School of Medicine New Haven CT USA

Funder

Eesti Teadusagentuur

Lundbeckfonden

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.915

Reference13 articles.

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

2. 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

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

4. Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?

5. Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases

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2. Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations;Molecular Genetics and Genomics;2024-07-07

3. 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

4. Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation;BMJ Case Reports;2023-05

5. A novel deleterious ETFA promoter variant causative of multiple acyl‐CoA dehydrogenase deficiency;American Journal of Medical Genetics Part A;2022-12-28