title: [Different phenotypes of type IXb glycogenosis (phosphorylase-b-kinase deficiency) in adult- and early childhood].
authors.affiliation: Klinik für Kindermedizin der Universität Leipzig.
authors.forename: P
authors.initials: P
authors.lastname: Müller
authors.forename: P
authors.initials: P
authors.lastname: Bührdel
authors.forename: B
authors.initials: B
authors.lastname: Freidt
authors.forename: H J
authors.initials: HJ
authors.lastname: Böhme
mesh_terms: 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
chemical_list: D010764:Phosphorylase Kinase