Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)-Reference-Cited by-同舟云学术

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

Published:1998-04 Issue:2 Volume:21 Page:167-172
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

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

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005351927573/fullpdf

Reference19 articles.

1. The assay of arylsulfatase A and B in human urine;Baum;Clin Chim Acta,1959

2. Carbohydrate-deficient glycoprotein syndrome with previously unreported features;Eyskens;Acta Paediatr,1994

3. Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay;Hutchesson;Arch Dis Child,1995

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