Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency

Debrancher deficiency: Neuromuscular disorder in 5 adults

Salvatore DiMauro, Geoffrey B. Hartwig, Arthur Hays et al. · Annals of Neurology · 1979 · 163 citations

Medicine, Biochemistry, Neurology +17

Human Muscle Phosphoglycerate Mutase Deficiency: Newly Discovered Metabolic Myopathy

Salvatore DiMauro, Armand F. Miranda, Shahnaz Khan et al. · Science · 1981 · 120 citations

Life Sciences, Biochemistry, Physiology +17

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

B Lederer, F. Van Hoof, Greet Van den Berghe · Biochemical Journal · 1975 · 81 citations · Full text

Life Sciences, Biochemistry, Physiology +17

Glycogen-storage disease in rats, a genetically determined deficiency of liver phosphorylase kinase

R. S. Malthus, D. G. Clark, Colin Watts et al. · Biochemical Journal · 1980 · 70 citations · Full text

Life Sciences, Biochemistry, Endocrinology +17

Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver

George Hug, William K. Schubert, Gail Chuck · Journal of Clinical Investigation · 1969 · 66 citations · Full text

Life Sciences, Biochemistry, Pathology +17