Carbohydrate-deficient glycoprotein syndrome: Beyond the screen-Reference-Cited by-同舟云学术

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Carbohydrate-deficient glycoprotein syndrome: Beyond the screen

Published:2000-06 Issue:4 Volume:23 Page:396-398
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Fletcher J. M.¹,Matthijs G.²,Jaeken J.³,Van Schaftingen E.⁴,Nelson P.V.¹

Affiliation:

1. ; Department of Chemical Pathology; Women's and Children's Hospital; North Adelaide Australia

2. ; Centre for Human Genetics; Universitair Ziekenhuis Gasthuisberg; Leuven Belgium

3. ; Department of Paediatrics; Universitair Ziekenhuis Gasthuisberg; Leuven Belgium

4. ; Laboratory of Physical Chemistry; International Institute of Cellular and Molecular Pathology and University of Louvain; Brussels Belgium

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005660004047/fullpdf

Reference4 articles.

1. Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?;Jaeken;Pediatr Res,1980

2. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A;Matthijs;Am J Hum Genet,1998

3. The carbohydrate deficient glycoprotein syndrome in three Japanese children;Ohno;Brain Dev,1992

4. Phosphomannomutase deÐciency is a cause of carbohydrate-deÐcient glycoprotein syndrome type 1;Van Schaftingen;FEBS Lett,1995

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