Phosphorylase kinase deficiency: Severe glycogen storage disease with evidence of autosomal recessive mode of inheritance

  title={Phosphorylase kinase deficiency: Severe glycogen storage disease with evidence of autosomal recessive mode of inheritance},
  author={Oddmund S{\o}vik and Thierry de Barsy and B O Maehle},
  journal={European Journal of Pediatrics},
Departments of ~ Pediatrics and 3 Pathology, University of Bergen, 5016 Haukeland Hospital, Bergen, Norway 2 Laboratoire de Chimie Physiologique, Universit6 Catholique de Louvain, Brussels, Belgium (497/U/1) were markedly elevated. Serum cholesterol (8.7 retool/l) as well as triglycerides (3retool/I) were elevated. Her height was between the 2.5th and 10th percentile. In summary, our patient presented the following features: marked hepatomegaly, muscular hypotonia, fasting hypoglycemia, minimal… 

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