A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency-Reference-Cited by-同舟云学术

A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency

Published:1998-04 Issue:1 Volume:245 Page:38-42
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

de Koning T.J.,Dorland L.,van Diggelen O.P.,Boonman A.M.C.,de Jong G.J.,van Noort W.L.,De Schryver Jear,Duran M.,van den Berg I.E.T.,Gerwig G.J.,Berger R.,Poll-The B.T.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference18 articles.

1. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90

2. Carbohydrate-Deficient Glycoprotein Syndrome - A Fourth Subtype

3. Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

4. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

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