4.7 Article

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Clinical Neurology

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

Geetha Anand et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2012)

Article Endocrinology & Metabolism

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

Tobias B. Haack et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2012)

Review Clinical Neurology

The distal hereditary motor neuropathies

Alexander M. Rossor et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)

Article Clinical Neurology

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: A clinical, biochemical and genetic study

Marianna Ciccolella et al.

NEUROMUSCULAR DISORDERS (2012)

Editorial Material Biochemistry & Molecular Biology

Riboflavin transporter is finally identified

Yoshinori Moriyama

JOURNAL OF BIOCHEMISTRY (2011)

Article Genetics & Heredity

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

Peter Green et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Nutrition & Dietetics

Toxic Effects of Water-Soluble Vitamins

Leslie Alhadeff et al.

NUTRITION REVIEWS (2010)

Article Endocrinology & Metabolism

Mitochondrial fatty acid oxidation defects-remaining challenges

Niels Gregersen et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2008)

Review Genetics & Heredity

Brown-Vialetto-Van Laere syndrome

Sivakumar Sathasivam

ORPHANET JOURNAL OF RARE DISEASES (2008)

Article Neurosciences

A brazilian family with Brown-Vialettovan Laere syndrome with autosomal recessive inheritance

Jose Augusto Malheiros et al.

ARQUIVOS DE NEURO-PSIQUIATRIA (2007)

Article Clinical Neurology

Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome

D De Grandis et al.

NEUROMUSCULAR DISORDERS (2005)

Article Clinical Neurology

Cryptogenic polyneuropathy:: clinical and neurophysiological findings

J Lindh et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2005)

Article Clinical Neurology

Infantile progressive bulbar palsy with deafness

KA Voudris et al.

BRAIN & DEVELOPMENT (2002)