Déficit de glycosylation des protéines : Présentation clinique

Archives de Pediatrie

Volumn 3, Issue SUPPL. 1, 1996, Pages

  Ogier De Baulny, H ^a   Poggi Travert, F ^b   Besnard, M ^a   Saudubray, J M ^b  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN DISEASE; CARDIOMYOPATHY; CLINICAL ARTICLE; CLINICAL TRIAL; CONFERENCE PAPER; EYE DISEASE; FACE DYSMORPHIA; HUMAN; HYPOGLYCEMIA; INFANT; METABOLIC DISORDER; NEWBORN; PRESCHOOL CHILD; PROTEIN GLYCOSYLATION; ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; DIFFERENTIAL DIAGNOSIS;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; DIAGNOSIS, DIFFERENTIAL; HUMANS; INFANT;

EID: 0030007750     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (4)

1. Jaeken J, Vanderschweren-Lodeweyckx M, Casaer S et al. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum aryl-sulphatase A and increased CSF protein: A new syndrome? Pediatr Res 1981;14:179
2. Jaeken J, Hagberg B, Stromne P. Clinical presentation and natural course of the carbohydrate deficient glycoprotein syndrome. Acta Paediatr Scand 1991;375 (Suppl):6-13
3. Billette de Villemeur T, Poggi-Travert F, Laurent J et al. Le syndrome d'hypoglycosylation des protéines : Un nouveau groupe de maladies héréditaires à expression multisystémique. Journées parisiennes de pédiatrie 1995. Paris : Flammarion 1995 119-24
4. Van Schaftingen E, Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS 1995;377:318-20