Movement disorders clinical practice
Phenotypic, Genotypic Characteristics, and Treatment Strategies of Pediatric Tyrosine Hydroxylase Deficiency: A Single-Center Retrospective Analysis of 51 Cases.
Tingting Ban, Ye Cheng, Yan Zhang, Caimei Lin, Yiming Chai, Wenhui Li, Linmei Zhang, Qinghe Xing, Yi Wang, Shuizhen Zhou
Published: 202510.1002/mdc3.70371
Abstract
BACKGROUND: Tyrosine hydroxylase deficiency (THD) is a rare autosomal recessive disorder caused by impaired catecholamine biosynthesis in the brain. The rarity and heterogeneous clinical spectrum of THD often lead to misdiagnosis, and evidence-based,…
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