Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1-Reference-Cited by-同舟云学术

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Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1

Published:2000-03 Issue:2 Volume:23 Page:162-174
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Imtiaz F.¹,Worthington V.²,Champion M.¹,Beesley C.¹,Charlwood J.³,Clayton P.¹,Keir G.⁴,Mian N.¹,Winchester B.¹

Affiliation:

1. ; Biochemistry, Endocrinology and Metabolism Unit; Institute of Child Health (University College London); London UK

2. ; Enzyme Laboratory, Chemical Pathology; Great Ormond Street Hospital for Children NHS Trust; London UK

3. ; SmithKline Beecham; New Frontiers Science Park (North) UK

4. ; Department of Neuroimmunology; Institute of Neurology (University College London); London UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005669900330/fullpdf

Reference41 articles.

1. Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities.;Acarregui;J Pediatr,1998

2. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide;Burda;J Clin Invest,1998

3. Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome.;Clayton;J Inherit Metab Dis,1992

4. Carbohydrate deficient glycoprotein syndrome: normal glycosylation in the fetus.;Clayton;Lancet,1993

5. A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS Type 1) with normal phosphomannomutase activity.;Charlwood;J Inherit Metab Dis,1997

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