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Case Reports
. 1992;47(3):191-4.

[Diagnosis of aspartylglycosaminuria in a nine year-old girl admitted to pediatric psychiatry]

[Article in French]
M N Loiseau-Corvez  1 , M Bonnaure, C Le Berre, C Jezequel
Affiliations
  • PMID: 1319042
Case Reports

[Diagnosis of aspartylglycosaminuria in a nine year-old girl admitted to pediatric psychiatry]

[Article in French]
M N Loiseau-Corvez et al. Pediatrie. 1992.

Abstract

A nine year-old, mentally retarded girl was admitted because of growth retardation and recurrent respiratory infections. The lysosomal storage disease was ascertained by microscopic examination of bone marrow and gum biopsies. The diagnosis was provided by urine chromatography: the glycoasparagine Glc-Nac-Asn was characteristic of patients with aspartylglycosaminuria.

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