The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives-Reference-Cited by-同舟云学术

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The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Published:2012 Issue:1 Volume:7 Page:83
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Bosch Annet M,Stroek Kevin,Abeling Nico G,Waterham Hans R,IJlst Lodewijk,Wanders Ronald JA

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Reference25 articles.

1. Brown-Vialetto-Van Laere syndrome

2. Brown–Vialetto–Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease

3. 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

4. Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

5. Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome

Cited by 119 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. Rare Diseases Linked to Mutations in Vitamin Transporters Expressed in the Human Blood–Brain Barrier;Clinical Pharmacology & Therapeutics;2024-09-05

2. Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia;Frontiers in Pediatrics;2024-04-30

3. Phenotypic Variability Related to Mutations in Riboflavin Transporter in Brazilian Children: Pediatric Case Series;Journal of Pediatric Neurology;2024-04-24

4. A riboflavin transporter deficiency presenting as pure red cell aplasia: a pediatric case report;Frontiers in Pediatrics;2024-04-17

5. Development of a functional outcome measure for riboflavin transporter deficiency;Journal of the Peripheral Nervous System;2024-03-06

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