Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities-Reference-Cited by-同舟云学术

Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities

Published:1998-11 Issue:5 Volume:133 Page:697-700
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Acarregui Michael J.,George Thomas N.,Rhead William J.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference11 articles.

1. Early manifestations of the carbohydrate-deficient glycoprotein syndrome;Petersen;J Pediatr,1993

2. Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome;Stibler;Acta Paediatr Scand Suppl,1991

3. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I;Van Schaftingen;FEBS Lett,1995

4. Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome;Horslen;Arch Dis Child,1996

5. The carbohydrate-deficient glycoprotein syndromes: Pre-Golgi and Golgi disorders?;Jaeken;Glycobiology,1993

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