Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).

Barone, R; Carchon, H; Jansen, E; Pavone, L; Fiumara, A; Bosshard, N U; Gitzelmann, R; Jaeken, J

Barone, R; Carchon, H; Jansen, E; Pavone, L; Fiumara, A; Bosshard, N U; Gitzelmann, R; Jaeken, J.

Affiliation

Barone R; Division of Pediatric Neurology, University of Catania, Italy.

J Inherit Metab Dis ; 21(2): 167-72, 1998 Apr.

Article in En | MEDLINE | ID: mdl-9584269

Subject(s)

Congenital Disorders of Glycosylation/blood; Leukocytes/enzymology; Lysosomes/enzymology; Phosphotransferases (Phosphomutases)/deficiency; Female; Humans; Male

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Collection: 01-internacional Database: MEDLINE Main subject: Phosphotransferases (Phosphomutases) / Congenital Disorders of Glycosylation / Leukocytes / Lysosomes Limits: Female / Humans / Male Language: En Journal: J Inherit Metab Dis Year: 1998 Document type: Article Affiliation country: Italy

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