Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference8 articles.
1. Deficient activity of dephosphorylase kinase and accumulation of glycogen in the liver;Hug;J Clin Invest,1969
2. Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease;Lederer;Biochem J,1975
3. Phosphorylase b kinase from rabbit muscle;Krebs;Methods Enzymol,1966
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5. The role of calmodulin in the structure and regulation of phosphorylase kinase, from rabbit skeletal muscle;Shenolikar;Eur J Biochem,1979
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1. X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males;Pediatrics & Neonatology;2009-10
2. Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2);Human Molecular Genetics;1996-05-01
3. Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes;Journal of Inherited Metabolic Disease;1996-01
4. Phosphorylase kinase deficiency in I–strain mice is associated with a frameshift mutation in the α subunit muscle isoform;Nature Genetics;1993-12
5. Phosphorylase kinase activity in I/strain neonatal skeletal muscle with a deficiency in αα′ subunit mRNAs;Biochemical and Biophysical Research Communications;1991-08
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