'Carbohydrate-deficient glycoprotein' syndrome;Syndrome d'hypoglycosylation des glycoproteines seriques

Archives de Pediatrie

Volumn 7, Issue 2, 2000, Pages 173-184

  De Lonlay, P ^a   Cormier Daire, V ^a   Vuillaumier Barrot, S ^b   Cuer, M ^b   Durand, G ^b   Munnich, A ^a   Saudubray, J M ^a   Seta, N ^b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b BICHAT HOSPITAL   (France)

Author keywords

Carbohydrate deficient glycoprotein syndrome; Phosphomannomutase deficiency; Phosphomannose isomerase deficiency

Indexed keywords

MANNOSE; MANNOSE PHOSPHATE ISOMERASE; PHOSPHOMANNOMUTASE; GLYCOPROTEIN; PLASMA PROTEIN; TRANSFERRIN;

CARDIOMYOPATHY; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; ENTEROPATHY; ENZYME DEFICIENCY; GLYCOSYLATION; HUMAN; LIVER FAILURE; NEPHROTIC SYNDROME; PERICARDITIS; RETINITIS PIGMENTOSA; REVIEW; BLOOD; CLASSIFICATION; DIFFERENTIAL DIAGNOSIS; GENETICS; METABOLISM; PATHOPHYSIOLOGY;

BLOOD PROTEINS; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; DIAGNOSIS, DIFFERENTIAL; GLYCOPROTEINS; GLYCOSYLATION; HUMANS; TRANSFERRIN;

EID: 0034141605     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-693X(00)88089-6     Document Type: Article

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