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Article

[A family with two children diagnosed with aspartylglucosaminuria-case report and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2014

Liu Yujie, Zou Liping, Meng Yan, Zhang Ying, Shi Xiuyu, Ju Jun, Yang Guang, Hu Linyan, Chen Xiaoqiao

Abstract excerpt

OBJECTIVE: The authors sought to investigate the clinical features and characteristics of genetic mutation in patients with aspartylglucosaminuria. METHOD: Clinical data of two pediatric siblings in a family were analyzed retrospectively and relative literature was reviewed in order to study the clinical features, imaging and enzymatic characteristics and genetic mutations. RESULT: Case 1, the proband, male, he...

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Source

Identifiers

PMID: 25190167

Genes

AGA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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