Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance.
D005260:Female; D006008:Glycogen Storage Disease / Q000209:etiology*; D006801:Humans; D007223:Infant; D010764:Phosphorylase Kinase / Q000172:deficiency*
D010764:Phosphorylase Kinase