婴儿期过度生长和青春期早期生长突增：天冬氨酰葡糖胺尿症患者的典型特征。
Excessive infantile growth and early pubertal growth spurt: typical features in patients with aspartylglycosaminuria.
作者信息
Arvio P, Arvio M, Marttinen E, Sipilä I, Pirinen S
机构信息
Hospital for Children and Adolescents, Pediatric Neurology, Pediatric Endocrinology, and Pediatric Radiology, University of Helsinki, Helsinki, Finland.
出版信息
J Pediatr. 1999 Jun;134(6):761-3. doi: 10.1016/s0022-3476(99)70294-5.
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.
摘要
快速的婴儿期生长是天冬氨酰氨基葡糖苷尿症（一种溶酶体贮积症）患者（n = 51）的首个临床症状。即使患有天冬氨酰氨基葡糖苷尿症的幼儿身高高于同龄人，但两性早期出现的但较为微弱的青春期生长突增导致成年身高降低。
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