Treatment of genetic defects of thiamine transport and metabolism-Reference-Cited by-同舟云学术

Treatment of genetic defects of thiamine transport and metabolism

Published:2016-05-23 Issue:7 Volume:16 Page:755-763
ISSN:1473-7175
Container-title:Expert Review of Neurotherapeutics
language:en
Short-container-title:Expert Review of Neurotherapeutics

Author:

Ortigoza-Escobar Juan Darío¹²,Molero-Luis Marta³⁴,Arias Angela⁵⁴,Martí-Sánchez Laura¹³,Rodriguez-Pombo Pilar⁶⁴,Artuch Rafael³⁴,Pérez-Dueñas Belén¹⁴

Affiliation:

1. Department of Child Neurology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain

2. Department of Child Neurology, Hospital General de Granollers, Barcelona, Spain

3. Clinical Biochemistry, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain

4. Centre for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

5. Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic, Barcelona, Spain

6. Departamento de Biología Molecular, Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Centro de Biología Molecular Severo Ochoa CSIC-UAM, IDIPAZ, Universidad Autónoma de Madrid, Madrid, Spain

Funder

Instituto de Salud Carlos III-FEDER

Agència de GestiÓ d’Ajuts Universitaris i de Recerca-Agaur

Publisher

Informa UK Limited

Subject

Pharmacology (medical),Neurology (clinical),General Neuroscience

Link

https://www.tandfonline.com/doi/pdf/10.1080/14737175.2016.1187562

Reference73 articles.

1. CHARACTERIZATION OF NORMAL INTESTINAL THIAMIN TRANSPORT IN ANIMALS AND MAN

2. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

3. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome

4. The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter

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