Genetic defect of the sodium‐dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency-Reference-Cited by-同舟云学术

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Genetic defect of the sodium‐dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency

Published:2019-05-28 Issue:1 Volume:48 Page:11-14
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Schwantje Marit¹²,de Sain‐van der Velden Monique¹,Jans Judith¹,van Gassen Koen¹,Dorrepaal Charlotte³,Koop Klaas²,Visser Gepke²^ORCID

Affiliation:

1. Department of GeneticsUniversity Medical Center Utrecht Utrecht The Netherlands

2. Department of Metabolic DiseasesWilhelmina Children's Hospital, University Medical Center Utrecht Utrecht the Netherlands

3. Department of PediatricsSt. Antonius Hospital Woerden The Netherlands

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12040

Reference18 articles.

1. The Sodium/Multivitamin Transporter

2. Human Placental Na+-dependent Multivitamin Transporter

3. Conditional knockout of the Slc5a6 gene in mouse intestine impairs biotin absorption

4. Biotin-responsive Disorders

5. Coenzyme A: Back in action

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1. Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives;International Journal of Molecular Sciences;2024-06-14

2. Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy;European Journal of Human Genetics;2024-05-30

3. Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation;The American Journal of Human Genetics;2024-04

4. A new case of sodium‐dependent multivitamin transporter defect occurring as a life‐threatening condition responsive to early vitamin supplementation and literature review;Molecular Genetics & Genomic Medicine;2024-02

5. Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb;Frontiers in Genetics;2024-01-29

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