Genetic and Metabolic Analysis of the First Adult with Congenital Disorder of Glycosylation Type Ib: Long-Term Outcome and Effects of Mannose Supplementation-Reference-Cited by-同舟云学术

Genetic and Metabolic Analysis of the First Adult with Congenital Disorder of Glycosylation Type Ib: Long-Term Outcome and Effects of Mannose Supplementation

Published:2001-05 Issue:1 Volume:73 Page:77-85
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Westphal Vibeke,Kjaergaard Susanne,Davis Joseph A.,Peterson Sandra M.,Skovby Flemming,Freeze Hudson H.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference19 articles.

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2. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency;de Koning;Biochem Biophys Res Commun,1998

3. Carbohydrate-deficient glycoprotein syndrome type Ib;Niehues;J Clin Invest,1998

4. Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase;Proudfoot;Eur J Biochem,1994

5. Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity;Freeze;Biochim Biophys Acta,1999

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