Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia

Clinical Chemistry

Volumn 48, Issue 6, 2002, Pages 934-936

  Barnier, Anne ^a   Dupré, Thierry ^a   Cuer, Maryvonne ^a   Vuillaumier Barrot, Sandrine ^a   Durand, Geneviève ^a   Seta, Nathalie ^a  

^a BICHAT HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN; MANNOSE 6 PHOSPHATE; MANNOSE PHOSPHATE; PHOSPHOMANNOMUTASE;

ARTICLE; CONGENITAL DISORDERS OF GLYCOSYLATION; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; GLYCOSYLATION; HETEROZYGOTE; HUMAN; HUMAN CELL; LEUKOCYTE; MAJOR CLINICAL STUDY; MONONUCLEAR CELL; PSYCHOMOTOR RETARDATION; REFERENCE VALUE;

EID: 0036267313     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/48.6.934     Document Type: Article

References (17)

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3. Phosphomannomptase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
4. Carbohydrate-deficient glycoprotein (CDG) syndrome type I
5. Mutation update: Mutation's in PMM2 cause congenital disorders of glycosylation, type Ia (CDG-Ia)
6. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type Ia
7. Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome
8. A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity
9. Comparison of PMM1 with the phosphomannomutase expressed in rat liver and in human cells
10. Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1
11. Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency
12. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
13. High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)
14. Isolation of leucocytes from human blood
15. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
16. Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients
17. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: A series of 26 cases