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Updated: Jul 10, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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[Complex glycerol kinase deficiency in three children]

Xiu-Zhen Li1, Li Liu, Hui-Fen Mei

  • 1Department of Endocrinology and Metabolism, Guangzhou Children's Hospital, Guangzhou 510120, China.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|October 17, 2007
PubMed
Summary

Glycerol kinase deficiency (GKD) in males presents with hypoadrenocorticism and Duchenne muscular dystrophy. While treatment improved adrenal symptoms, developmental delays and myasthenia persisted, with two patients succumbing to adrenal crisis.

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