Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency.
Servidei
S
S
Columbia-Presbyterian Medical Center, New York, New York.
Metlay
L A
LA
Chodosh
J
J
DiMauro
S
S
D009202:Cardiomyopathies / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D005260:Female; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D007223:Infant; D007668:Kidney / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D009132:Muscles / Q000378:metabolism; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D010764:Phosphorylase Kinase / Q000172:deficiency* / Q000378:metabolism
D006003:Glycogen; D010764:Phosphorylase Kinase