[Different phenotypes of type IXb glycogenosis (phosphorylase-b-kinase deficiency) in adult- and early childhood].
Müller
P
P
Klinik für Kindermedizin der Universität Leipzig.
Bührdel
P
P
Freidt
B
B
Böhme
H J
HJ
D002675:Child, Preschool; D003937:Diagnosis, Differential; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006008:Glycogen Storage Disease / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D010764:Phosphorylase Kinase / Q000172:deficiency* / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome
D010764:Phosphorylase Kinase