title: Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV).
authors.forename: A
authors.initials: A
authors.lastname: Schänzer
authors.forename: D
authors.initials: D
authors.lastname: Faas
authors.forename: S
authors.initials: S
authors.lastname: Rust
authors.forename: T
authors.initials: T
authors.lastname: Podskarbi
authors.forename: A B P
authors.initials: AB
authors.lastname: van Kuilenburg
authors.forename: M
authors.initials: M
authors.lastname: Scarpa
authors.forename: A
authors.initials: A
authors.lastname: Kunze
authors.forename: T
authors.initials: T
authors.lastname: Marquardt
authors.forename: A
authors.initials: A
authors.lastname: Hahn
mesh_terms: D001706:Biopsy; D019735:Carbon-Carbon Ligases / Q000172:deficiency / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D005858:Germany; D006011:Glycogen Storage Disease Type IV / Q000175:diagnosis* / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D006596:Hexosaminidases / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn; D008264:Macrophages / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009210:Myofibrils / Q000473:pathology; D014421:Turkey / Q000208:ethnology; D056806:Urea Cycle Disorders, Inborn / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics
chemical_list: D006596:Hexosaminidases; C086400:chitotriosidase; D019735:Carbon-Carbon Ligases