Les syndromes d'hypoglycosylation

Archives de Pediatrie

Volumn 3, Issue SUPPL. 1, 1996, Pages

  Jaeken, J ^a   Carchon, H ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CHILD; CONFERENCE PAPER; EPILEPSY; FACE DYSMORPHIA; HUMAN; INFANT; MENTAL DEFICIENCY; METABOLIC DISORDER; MORTALITY; NEUROPATHY; PROTEIN GLYCOSYLATION;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD, PRESCHOOL; HUMANS; INFANT;

EID: 0029890590     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0929-693x(96)86027-1     Document Type: Article

References (10)

1. Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P et al. Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? Pediatr Res 1980;14:179
2. Jaeken J, Carchon H, Stibler H. The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? Glycobiology 1993;3:423-8
3. Stibler H, Blennow G, Kristiansson B, Lindehammer H, Hagberg B. Carbohydratedeficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease. J Neurol Neurosurg Psychiatr 1994;57:552-6
4. Billette de Villemeur T, Poggi-Travert F, Laurent J, Jaeken J, Saudubray JM. Le syndrome d' hypoglycosylation des protéines : un nouveau groupe de maladies héréditaires à l'expression multisystémique. In : Arthuis M et al, eds. Journées Parisiennes de Pédiatrie. Paris : Médecine - Flammarion Sciences, 1995:119-24
5. Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G. Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. Arch Dis Child 1994;71:123-7
6. Van Geet C, Jaeken J. A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome. Pediatr Res 1993;33:540-1
7. De Zegher F, Jaeken J. Endocrinology of the carbohydrate-deficient glycoprotein syndrome type I from birth through adolescence. Pediatr Res 1995;37:395-401
8. Wada Y, Nishikawa A, Okamoto N et al. Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome. Biochem Biophys Res Commun 1992;189:832-6
9. Panneerselvam K, Freeze HH. Enzymes involved in the synthesis of mannose-6-phosphate from glucose are normal in carbohydrate deficient glycoprotein syndrome fibroblasts. Biochem Biophys Res Commun 1995;208:517-22
10. Jaeken J, van Eijk HG, van der Heul C, Corbeel L, Eeckels R, Eggermont E. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta 1984;144:245-7