Liver Glycogenosis and Phosphorylase Kinase Deficiency

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1970 Jul 1

PMID 5270453

Citations 2

Authors

F Huijing

J Fernandes

Affiliations

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Citing Articles

Dosage Compensation in Females with X-Linked Metabolic Disorders.

Juchniewicz P, Piotrowska E, Kloska A, Podlacha M, Mantej J, Wegrzyn G Int J Mol Sci. 2021; 22(9).

PMID: 33925963 PMC: 8123450. DOI: 10.3390/ijms22094514.

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.

Lederer B, Van Hoof F, Van den Berghe G, Hers H Biochem J. 1975; 147(1):23-35.

PMID: 168880 PMC: 1165371. DOI: 10.1042/bj1470023.

References

Hug G, Schubert W, Chuck G . Phosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen. Science. 1966; 153(3743):1534-5. DOI: 10.1126/science.153.3743.1534. View

YUNIS A, ARIMURA G . Isoenzymes of glycogen phosphorylase in human leukocytes and platelets: relation to muscle phosphorylase. Biochem Biophys Res Commun. 1968; 33(1):119-28. DOI: 10.1016/0006-291x(68)90265-9. View

Hug G, Schubert W, Chuck G . Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver. J Clin Invest. 1969; 48(4):704-15. PMC: 322275. DOI: 10.1172/JCI106028. View

Huijing F, Fernandes J . X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. Am J Hum Genet. 1969; 21(3):275-84. PMC: 1706412. View