title: Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects.
authors: R
authors: R
authors: Zannolli
authors: V
authors: V
authors: Micheli
authors: M A
authors: MA
authors: Mazzei
authors: P
authors: P
authors: Sacco
authors: P
authors: P
authors: Piomboni
authors: E
authors: E
authors: Bruni
authors: C
authors: C
authors: Miracco
authors: M M
authors: MM
authors: de Santi
authors: P
authors: P
authors: Terrosi Vagnoli
authors: L
authors: L
authors: Volterrani
authors: L
authors: L
authors: Pellegrini
authors: W
authors: W
authors: Livi
authors: B
authors: B
authors: Lucani
authors: S
authors: S
authors: Gonnelli
authors: A B
authors: AB
authors: Burlina
authors: G
authors: G
authors: Jacomelli
authors: F
authors: F
authors: Macucci
authors: L
authors: L
authors: Pucci
authors: M
authors: M
authors: Fimiani
authors: J A
authors: JA
authors: Swift
authors: M
authors: M
authors: Zappella
authors: G
authors: G
authors: Morgese
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D001851:Bone Diseases, Metabolic / Q000235:genetics*; D002648:Child; D002658:Developmental Disabilities / Q000235:genetics*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics*; D008297:Male; D009397:Nephrocalcinosis / Q000235:genetics*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000652:urine; D014071:Tooth Abnormalities / Q000235:genetics*; D014970:Xanthines / Q000652:urine*
chemical_list: D014970:Xanthines