Arvio P, Arvio M, Marttinen E, Sipilä I, Pirinen S
Hospital for Children and Adolescents, Pediatric Neurology, Pediatric Endocrinology, and Pediatric Radiology, University of Helsinki, Helsinki, Finland.
J Pediatr. 1999 Jun;134(6):761-3. doi: 10.1016/s0022-3476(99)70294-5.
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.