G Keir, BG Winchester, P Clayton - Ann Clin Biochem, 1999 - acb.org.uk SUMMARY. The carbohydrate-deficient glycoprotein (CDG) syndromes (CDGS) are a
series of autosomal recessive enzyme deficiencies which result in incomplete
glycosylation of plasma proteins. CDGS types Ia and Ib have been related to ... Cited by 58 - Related articles - View as HTML - All 6 versions
- ►nih.gov S Grünewald, E Schollen, E Van Schaftingen, … - The American Journal of Human Genetics, 2001 - Elsevier Congenital disorders of glycosylation (CDGs) are a rapidly enlarging group of
inherited diseases with abnormal N-glycosylation of glycoconjugates. Most
patients have CDG-Ia, which is due to a phosphomannomutase (PMM) ... Cited by 43 - Related articles - BL Direct - All 9 versions
H Carchon, E Van Schaftingen, G Matthijs, J … - BBA-Molecular Basis of Disease, 1999 - Elsevier The carbohydrate-deficient glycoprotein or CDG syndromes (OMIM 212065) are a
recently delineated group of genetic, multisystem diseases with variable
dysmorphic features. The known CDG syndromes are characterized by a partial ... Cited by 33 - Related articles - All 7 versions
H Schachter, J Jaeken - BBA-Molecular Basis of Disease, 1999 - Elsevier The carbohydrate-deficient glycoprotein syndromes (CDGS) are a group of
autosomal recessive multisystemic diseases characterized by defective
glycosylation of N-glycans. This review describes recent findings on two ... Cited by 33 - Related articles - All 4 versions
S Grünewald, T Imbach, K Huijben, ME Rubio- … - Annals of neurology, 2000 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 31 - Related articles - BL Direct - All 5 versions
J Jaeken, P Casaer - European Journal of Paediatric Neurology, 1997 - Elsevier European Journal of Paediatric Neurology 1997; 2 3:61-66 REVIEW ARTICLE
Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of
neuropaediatrics J JAEKEN, P CASAER Department of Paediatrics, University ... Cited by 25 - Related articles - All 4 versions
H Jensen, S Kjaergaard, F Klie, HU Moller - Ophthalmic genetics, 2003 - informahealthcare.com Abstract Purpose: To present the ophthalmic manifestations of patients with
congenital disorder of glycosylation type Ia (CDG-Ia) due to the frequent
R141H/F119L PMM2 genotype. Methods: Oph- thalmic records of 23 patients ... Cited by 12 - Related articles - BL Direct - All 5 versions
L Pavone, A Fiumara, R Barone, R Rizzo, P … - Journal of neurology, 1996 - Springer L. Pavone (~) • A. Fiumara R. Barone • R. Rizzo Department of Pediatrics,
University of Catania, Viale A. Doria, 6, 1-95100 Catania, Italy Tel.: +39 95
330533; Fax: +39 95 222532 P. Buttitta Department of Neonatology, G. ... Cited by 10 - Related articles - BL Direct - All 3 versions
M Di Rocco, R Barone, A Adami, A Burlina, M … - Journal of inherited metabolic disease, 2000 - Springer M. DI ROCCO1*, R. BARONE2, A. ADAMI3, A. BURLINA4, M. CARROZZI5, C.
DIONISI-VICI6, R. GATTI1, P. IANNETTI7, R. PARINI8, U. RAUCCI7, M. ROCCELLA9, M.
SPADA10 and A. FIUMARA2 1 Giannina Gaslini Institute, Genoa; 2 Division of ... Cited by 9 - Related articles - BL Direct - All 4 versions
- ►bmj.com [PDF] I Casteels, W Spileers, A Leys, L Lagae, J … - British Medical Journal, 1996 - bjo.bmj.com Page 1. doi:10.1136/bjo.80.10.900 1996;80;900-902 Br. J. Ophthalmol. I Casteels,
W Spileers, A Leys, L Lagae and J Jaeken 1 over a period of 14 years. ... Cited by 6 - Related articles - BL Direct - All 9 versions
