Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation-Reference-Cited by-同舟云学术

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Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation

Published:2013-11 Issue:3 Volume:110 Page:342-344
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Helander Anders,Stödberg Tommy,Jaeken Jaak,Matthijs Gert,Eriksson Maud,Eggertsen Gösta

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference21 articles.

1. Congenital disorders of glycosylation;Jaeken;Ann. N. Y. Acad. Sci.,2010

2. Congenital disorders of glycosylation (CDG): it's (nearly) all in it!;Jaeken;J. Inherit. Metab. Dis.,2011

3. Congenital disorders of glycosylation: sweet news;Theodore;Curr. Opin. Pediatr.,2011

4. CDG — an update;Morava;J. Inherit. Metab. Dis.,2011

5. CDG nomenclature: time for a change!;Jaeken;Biochim. Biophys. Acta,2009

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