title: Excessive infantile growth and early pubertal growth spurt: typical features in patients with aspartylglycosaminuria.
abstract: Rapid infantile growth was the first clinical sign in patients (n = 51) with aspartylglycosaminuria, a lysosomal storage disorder. Even if young children with aspartylglycosaminuria were tall for their age, an early but weak pubertal growth spurt in both sexes resulted in reduced adult heights.
authors.affiliation: Hospital for Children and Adolescents, Pediatric Neurology, Pediatric Endocrinology, and Pediatric Radiology, University of Helsinki, Helsinki, Finland.
authors.forename: P
authors.initials: P
authors.lastname: Arvio
authors.forename: M
authors.initials: M
authors.lastname: Arvio
authors.forename: E
authors.initials: E
authors.lastname: Marttinen
authors.forename: I
authors.initials: I
authors.lastname: Sipilä
authors.forename: S
authors.initials: S
authors.lastname: Pirinen
mesh_terms: D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005387:Finland; D006128:Growth; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000503:physiopathology* / Q000652:urine; D008297:Male; D008572:Menarche; D011627:Puberty / Q000502:physiology*
chemical_list: C000009:N-acetylglucosaminylasparagine; D000117:Acetylglucosamine