Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience

Evidence for the participation of independent translocation for phosphate and glucose 6-phosphate in the microsomal glucose-6-phosphatase system. Interactions of the system with orthophosphate, inorganic pyrophosphate, and carbamyl phosphate.

1980 • 266 citations

Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system.

1980 • 172 citations

A new variant of glycogen storage disease Type I probably due to a defect in the glucose-6-phosphate transport system

1978 • 145 citations

The Subgroups of Type III Glycogenosis

1967 • 135 citations

[89] Enzymes of glycogen degradation in biopsy material

1966 • 109 citations

Type Ic, a novel glycogenosis. Underlying mechanism.

1983 • 99 citations

The natural history of liver glycogenosis due to phosphorylase kinase deficiency: A longitudinal study of 41 patients

1990 • 88 citations

GLYCOGEN IN ERYTHROCYTES OF PATIENTS WITH GLYCOGEN STORAGE DISEASE

1961 • 86 citations

Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III

1990 • 83 citations

Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency

1975 • 81 citations

Circulating lipids and lipoproteins in glycogen storage disease type I with nocturnal intragastric feeding.

1988 • 79 citations

Infectious and Bleeding Complications in Patients With Glycogenosis lb

1985 • 78 citations

DIAGNOSIS OF TYPE 1a AND TYPE 1c GLYCOGEN STORAGE DISEASES IN ADULTS

1987 • 67 citations

Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency

1988 • 67 citations

Glycogen storage diseases

1972 • 55 citations

Acidemia and Insulin Resistance in the Diabetic Ketoacidotic Rat

1978 • 51 citations

Impaired platelet function in glucose-6-phosphatase deficiency

1974 • 45 citations

The mechanism of histone activation of the hepatic microsomal glucose-6-phosphatase system: a novel method to assay glucose-6-phosphatase activity

1988 • 44 citations

Neutropenia and impaired neutrophil function in glycogenosis type Ib

1984 • 39 citations

Type III glycogenosis

1966 • 37 citations

The apparent activity in vivo of the lysosomal pathway of glycogen catabolism in cultured human skin fibroblasts from patients with type III glycogen storage disease.

1978 • 35 citations

Endogenous glucose production in type I glycogen storage disease

1981 • 29 citations

Impaired metabolic function of polymorphonuclear leukocytes in glycogen storage disease Ib

1983 • 26 citations

Amylo-1, 6-glucosidase in human fibroblasts: Studies in Type III glycogen storage disease

1970 • 25 citations

Liver Glycogenosis Caused by a Defective Phosphorylase System: Hemolysate Analysis

1981 • 17 citations

Phosphorylaseb kinase deficiency in glycogenosis type VIII: Differentiation of different phenotypes and heterozygotes by erythrocyte enzyme assay

1986 • 16 citations

Congenital Metabolic Diseases

1986 • 16 citations

The glycogen storage diseases

1974 • 14 citations

Ultrastructural changes in fibroblast mitochondria of a patient with HHH‐syndrome

1984 • 14 citations

Glycogen Metabolism of Human Diploid Fibroblast Cells in Culture. I. Studies of Cells from Patients with Glycogenosis Types II, III, and V

1973 • 14 citations

Phosphorylase kinase in leukocytes and erythrocytes of a patient with glycogen storage disease type IX

1986 • 13 citations

Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI

1987 • 11 citations

Incorporation of [14C]Glucose into α-1,4 Bonds of Glycogen by Leukocytes and Fibroblasts of Patients with Type III Glycogen Storage Disease

1985 • 10 citations

X-Linked Recessive Ichthyosis

1989 • 8 citations

X-linked recessive ichthyosis. Enzymatic diagnosis of affected males and female carriers.

1989 • 8 citations

Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiency

1988 • 8 citations

Possible prenatal diagnosis of type III glycogenosis

1984 • 8 citations

A direct assay for each translocase of the hepatic microsomal glucose-6-phosphatase system

1987 • 7 citations

Type III glycogenosis: Atypical enzyme activities in blood cells in two siblings

1972 • 6 citations

Glycogen storage disease type I: laboratory data and diagnosis.

1987 • 6 citations

Interference in the measurement of red cell glycogen by glycogen from white cells

1987 • 3 citations

Type Ib Glycogen Storage Disease: An In Vivo and In Vitro Study of Two Cases

1984 • 1 citations

66 THE NATURAL HISTORY OF LIVER GLYCOGENOSIS DUE TO PHOSPHORYLASE KINASE OR PHOSPHORYLASE DEFICIENCY: A LONGITUDINAL STUDY OF 45 PATIENTS

1986 • 1 citations

Deleted Work

1955 • 0 citations

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