Phosphomannomutase deficiency: the molecular basis...[Mol Genet Metab. 1999] - PubMed Result

SearchDatabase nameforSearch term

Advanced Search

Your browser version may not work well with NCBI's Web applications. More information here...

Display Show

All: 1

Click to change filter selection through MyNCBI.

1: Mol Genet Metab. 1999 Oct;68(2):220-6. Links

Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

Matthijs G, Schollen E, Heykants L, Grünewald S.

Center for Human Genetics, University of Leuven, Leuven, B-3000, Belgium.

PMID: 10527672 [PubMed - indexed for MEDLINE]

Related articles

ReviewCarbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
Biochim Biophys Acta. 1999 Oct 8; 1455(2-3):155-65.

[Biochim Biophys Acta. 1999]
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
Nat Genet. 1997 May; 16(1):88-92.

[Nat Genet. 1997]
Carbohydrate-deficient glycoprotein syndrome due to phosphomannomutase deficiency: the first reported cases from Latin America.
Am J Med Genet. 1999 Jun 11; 84(5):481-3.

[Am J Med Genet. 1999]
Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).
J Inherit Metab Dis. 2001 Dec; 24(8):858-62.

[J Inherit Metab Dis. 2001]
ReviewMolecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity.
Biochim Biophys Acta. 1999 Oct 8; 1455(2-3):167-78.

[Biochim Biophys Acta. 1999]
» See reviews... | » See all...

Cited by 1 PubMed Central article

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).
Grünewald S, Schollen E, Van Schaftingen E, Jaeken J, Matthijs G. Am J Hum Genet. 2001 Feb; 68(2):347-54. Epub 2001 Jan 11.

[Am J Hum Genet. 2001]

Recent Activity

Clear Turn Off Turn On

Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS ...Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Display Show