Screening for congenital disorders of glycosylation in the first weeks of life

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(2012) Thierry Hennet   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern

(2011) M. Mohamed et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Congenital disorders of glycosylation

(2011) Miranda Theodore et al.   CURRENT OPINION IN PEDIATRICS

Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model

(2011) M. Binkhorst et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!

(2011) Jaak Jaeken   JOURNAL OF INHERITED METABOLIC DISEASE

How to find and diagnose a CDG due to defective N-glycosylation

(2011) Dirk J. Lefeber et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Congenital Muscular Dystrophies: A Brief Review

(2011) Enrico Bertini et al.   Seminars in Pediatric Neurology

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(2010) Jaak Jaeken   Annals of the New York Academy of Sciences

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

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