Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency-Reference-Cited by-全球学者库

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

Published:2016-03-18 Issue:5 Volume:37 Page:427-438
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Froese D. Sean¹²,Huemer Martina¹²³,Suormala Terttu¹,Burda Patricie¹,Coelho David⁴,Guéant Jean-Louis⁴,Landolt Markus A.⁵⁶,Kožich Viktor⁷,Fowler Brian¹,Baumgartner Matthias R.¹²⁸

Affiliation:

1. Division of Metabolism and Children's Research Center; University Children's Hospital; Zürich CH-8032 Switzerland

2. Radiz - Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases; University of Zürich; Switzerland

3. Department of Paediatrics; Landeskrankenhaus Bregenz; Austria

4. Institut National de la Santé et de la Recherche Médicale, Unité 954, Nutrition-Genetics and Environmental Exposure, Medical Faculty and National Center of Inborn Errors of Metabolism; University Hospital Center, Nancy University; Vandoeuvre lès Nancy France

5. Department of Psychosomatics and Psychiatry; University Children's Hospital Zürich; Zürich Switzerland

6. Department of Child and Adolescent Health Psychology; Institute of Psychology, University of Zürich; Zürich Switzerland

7. Institute of Inherited Metabolic Disorders; First Faculty of Medicine - Charles University in Prague and General University Hospital in Prague; Prague Czech Republic

8. Zurich Center for Integrative Human Physiology; University of Zürich; Zürich Switzerland

Funder

Rare Disease Initiative Zurich

University of Zurich, Switzerland

Swiss National Science Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference92 articles.

1. Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency;Abeling;J Inherit Metab Dis,1999

2. Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency;Arai;Epilepsia,2011