29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation

(2014) David FGJ Wolthuis et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Thrombotic complications in patients with PMM2-CDG

(2013) M. Linssen et al.   MOLECULAR GENETICS AND METABOLISM

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

(2013) Cyril Mignot et al.   Orphanet Journal of Rare Diseases

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

(2011) Jaak Jaeken   JOURNAL OF INHERITED METABOLIC DISEASE

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

(2010) Nadia Léticée et al.   MOLECULAR GENETICS AND METABOLISM

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

(2009) M. Anheim et al.   BRAIN

The skeletal manifestations of the congenital disorders of glycosylation

(2009) D Coman et al.   CLINICAL GENETICS

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

(2009) Micha A. Haeuptle et al.   HUMAN MUTATION

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia

(2008) Rita Barone et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I

(2008) E Morava et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations

(2008) B. Pérez-Dueñas et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

On the nomenclature of congenital disorders of glycosylation (CDG)

(2008) J. Jaeken et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia

(2008) J.B. Arnoux et al.   MOLECULAR GENETICS AND METABOLISM