Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia-Reference-Cited by-同舟云学术

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia

Published:2003-02 Issue:8 Volume:25 Page:635-646
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Briones P.¹,Vilaseca M. A.²,Schollen E.³,Ferrer I.²,Maties M.⁴,Busquets C.¹,Artuch R.²,Gort L.¹,Marco M.⁴,van Schaftingen E.⁵,Matthijs G.³,Jaeken J.⁶,Chabás A.¹

Affiliation:

1. Corporació Sanitària Clínic; Institut de Bioquímica Clínica; Barcelona

2. ; Hospital Sant Joan de Déu; Barcelona Spain

3. ; Center for Human Genetics; Leuven Belgium

4. ; Hospital Ramón y Cajal; Madrid Spain

5. Laboratory of Physiological Chemistry; Brussels

6. Center for Metabolic Diseases; University of Leuven; Belgium

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1022825113506/fullpdf

Reference31 articles.

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2. Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease;Briones;Eur J Paediatr Neurol,2001

3. Síndrome de proteínas deficientes en carbohidratos tipo I. Caso familiar;Cardo;Rev Neurol,1999

4. Síndrome de glicoproteinas deficientes en carbohidratos. Descripción clínica de un caso;Carratalá;Rev Neurol,1999

5. Low β-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII;Chabás;J Inherit Metab Dis,1991

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