CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene-Reference-Cited by-同舟云学术

CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

Author:

Vilaseca M. A.¹,Vilarinho L.²,Zavadakova P.³,Vela E.¹,Cleto E.⁴,Pineda M.¹,Coimbra E.⁴,Suormala T.⁵,Fowler B.⁵,Kozich V.³

Affiliation:

1. ; Hospital Sant Joan de Déu; Barcelona Spain

2. Porto Portugal

3. ; Institute of Inherited Metabolic Disorders; Charles University - First Faculty of Medicine; Prague Czech Republic

4. ; Hospital Geral Santo António; Porto Portugal

5. ; University Children's Hospital; Basel Switzerland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

Reference19 articles.

1. Evidence for impaired creatine synthesis in combined methylmalonic aciduria and homocystinuria (CblC);Bodamer;J Inherit Metab Dis,2002

2. Genetic defects of folate and cobalamin metabolism;Fowler;Eur J Pediatr,1998

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