An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency-Reference-Cited by-同舟云学术

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

Published:2019-02-21 Issue:4 Volume:42 Page:598-607
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

O'Callaghan Benjamin¹^ORCID,Bosch Annet M.²,Houlden Henry¹

Affiliation:

1. MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London UK

2. Emma Children's Hospital Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases Amsterdam The Netherlands

Funder

Medical Research Council Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12053

Reference62 articles.

1. The human flavoproteome

2. SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

3. Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

4. Disorders of riboflavin metabolism

5. Riboflavin transport and metabolism in humans

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