[一名入住儿童精神科的9岁女孩的天冬氨酰葡糖胺尿症诊断]
[Diagnosis of aspartylglycosaminuria in a nine year-old girl admitted to pediatric psychiatry].
作者信息
Loiseau-Corvez M N, Bonnaure M, Le Berre C, Jezequel C
机构信息
Service de pédiatrie A, hôpital-Sud, Rennes, France.
出版信息
Pediatrie. 1992;47(3):191-4.
PMID:1319042
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.
摘要
一名9岁智力发育迟缓女孩因生长发育迟缓及反复呼吸道感染入院。通过骨髓和牙龈活检的显微镜检查确诊为溶酶体贮积病。尿色谱法提供了诊断依据：糖天冬酰胺Glc-Nac-Asn是天冬氨酰葡糖胺尿症患者的特征性物质。
Zotero 插件