Related references
Note: Only part of the references are listed.Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease
A. E. Wuerde et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Mouse models for congenital disorders of glycosylation
Christian Thiel et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Congenital disorders of glycosylation (CDG): it's (nearly) all in it!
Jaak Jaeken
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Congenital disorders of glycosylation
Jaak Jaeken
YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS (2010)
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip
Nina Rind et al.
HUMAN MOLECULAR GENETICS (2010)
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
Peter M. Krawitz et al.
NATURE GENETICS (2010)
CDG nomenclature: Time for a change!
Jaak Jaeken et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)
Congenital Disorders of Glycosylation: An Update on Defects Affecting the Biosynthesis of Dolichol-Linked Oligosaccharides
Micha A. Haeuptle et al.
HUMAN MUTATION (2009)
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation
Florence Molinari et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
On the nomenclature of congenital disorders of glycosylation (CDG)
J. Jaeken et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
Congenital disorders of glycosylation:: Rapidly enlarging group of (neuro)metabolic disorders
Stephanie Grunewald
EARLY HUMAN DEVELOPMENT (2007)
Genetic defects in the human glycome (vol 7, pg 537, 2006)
Hudson H. Freeze
NATURE REVIEWS GENETICS (2006)
Genetic defects in the human glycome
Hudson H. Freeze
NATURE REVIEWS GENETICS (2006)
Deficiency of UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij
XH Wu et al.
HUMAN MUTATION (2003)