title: Clinical and biochemical manifestations of hyaluronidase deficiency.
authors.affiliation: Division of Medical Genetics, Shriver Center for Mental Retardation, Waltham, MA 02254, USA.
authors.forename: M R
authors.initials: MR
authors.lastname: Natowicz
authors.forename: M P
authors.initials: MP
authors.lastname: Short
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: G R
authors.initials: GR
authors.lastname: Dickersin
authors.forename: M C
authors.initials: MC
authors.lastname: Gebhardt
authors.forename: D I
authors.initials: DI
authors.lastname: Rosenthal
authors.forename: K B
authors.initials: KB
authors.lastname: Sims
authors.forename: A E
authors.initials: AE
authors.lastname: Rosenberg
mesh_terms: D000293:Adolescent; D000842:Ankle / Q000473:pathology; D005260:Female; D005385:Fingers / Q000473:pathology; D006130:Growth Disorders / Q000209:etiology; D006644:Histiocytes; D006801:Humans; D006820:Hyaluronic Acid / Q000378:metabolism; D006821:Hyaluronoglucosaminidase / Q000172:deficiency*; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000473:pathology* / Q000503:physiopathology; D008854:Microscopy, Electron; D010384:Pelvic Bones / Q000473:pathology
chemical_list: D006820:Hyaluronic Acid; D006821:Hyaluronoglucosaminidase