Excessive infantile growth and early pubertal growth spurt: typical features in patients with aspartylglycosaminuria.
case_series · Level IV
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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.
Medical subject headings
- Acetylglucosamine
- Growth
- Lysosomal Storage Diseases
- Puberty