From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

(2011) Vincent Cantagrel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism

(2010) Eva Morava et al.   BRAIN

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

(2010) Vincent Cantagrel et al.   CELL

Current management of pediatric dilated cardiomyopathy

(2010) Jennifer NA Silva et al.   CURRENT OPINION IN CARDIOLOGY

Clinical practice

(2010) Paul F. Kantor et al.   EUROPEAN JOURNAL OF PEDIATRICS

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

(2009) Dirk J. Lefeber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CDG nomenclature: Time for a change!

(2009) Jaak Jaeken et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Prenatal Cardiac Ultrasound Finding in Congenital Disorder of Glycosylation Type 1a

(2009) A. Malhotra et al.   FETAL DIAGNOSIS AND THERAPY

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review

(2009) E. J. Footitt et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

(2008) Saskia B. Wortmann et al.   BRAIN

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I

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

Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia

(2008) Gerben Truin et al.   MOLECULAR GENETICS AND METABOLISM

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

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