- ►nih.gov [PDF] A Fiumara, R Barone, P Buttitta, M Di Pietro, … - The British Journal of Ophthalmology, 1994 - pubmedcentral.nih.gov Carbohydrate deficient glycoprotein (CDG) syndromes area newly recognised group
of genetic multisystemic disorders characterised by partial deficiency of the
carbohydrate moieties of glycoproteins.' Three different types have been ... Cited by 18 - Related articles - BL Direct - All 8 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
S Andreasson, G Blennow, B Ehinger, K … - American journal of ophthalmology, 1991 - ncbi.nlm.nih.gov We examined five patients who had carbohydrate-deficient glycoprotein syndrome
with full-field electroretinograms. Only two of the patients showed fundus
changes typical for retinitis pigmentosa, whereas abnormal ... Cited by 21 - Related articles - All 2 versions
K Strömland, B Hagberg, B Kristiansson - Ophthalmic Genetics, 1990 - informahealthcare.com K. STROMLAND', B. HAGBERG2 and B. KRISTIANSSON2 ... Departments of '
Ophthalmology, 2Pediatrics, East Hospital, University of Gothenburg, Sweden ...
ABSTRACT. Disialotransferrin developmental deficiency (DDD) syndrome is a ... Cited by 13 - Related articles - All 4 versions
KL Stark, JB Gibson, RW Hertle, MC Brodsky - American journal of ophthalmology, 2000 - Elsevier RESULTS: A 10-month-old male with carbohydrate-deficient glycoprotein syndrome
type Ia had rapid horizontal oscillations of the eyes when startled or awakened
from sleep. Clinical examination confirmed this finding and disclosed ... Cited by 3 - Related articles - BL Direct - All 14 versions
PR Jensen, FJ Hansen, F Skovby - Neuroradiology, 1995 - Springer E R. Jensen (~)1. FJ Hansen. F. Skovby Section of Neuroradiology, Department of
Radiology, and Section of Clinical Genetics, Department of Pediatrics,
Rigshospitalet, Copenhagen, Denmark Present address: 1 Teglparken 8, ... Cited by 26 - Related articles - BL Direct - All 3 versions
MS Van der Knaap, RA Wevers, L Monnens, C … - Journal of inherited metabolic disease, 1996 - Springer Summary: Type I carbohydrate-deficient glycoprotein (CDG) syndrome is a genetic
multisystem disorder generally without overt renal problems. We report a neonate
with neurological abnormalities and congenital nephrotic syndrome of ... Cited by 23 - Related articles - BL Direct - All 5 versions
U Holzbach, F Hanefeld, G Helms, W Hänicke … - Acta Pædiatrica, 1995 - 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 17 - Related articles - BL Direct - All 5 versions
[CITATION] Evolution of ophthalmic and electrophysiological findings in identical twin sisters with …
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
