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Updated: Jun 30, 2025

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不断演变的半化脱酶缺乏症的表型

Natalia Alexandra Julia-Palacios1, Oya Kuseyri Hübschmann2, Mireia Olivella3

  • 1Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.

Journal of inherited metabolic disease
|March 19, 2024
PubMed
概括

这项研究表明,半脱酶缺乏症 (SSADHD) 随着时间的推移呈现出多样化的表型,其中运动和行为问题是突出的. 基因分析发现了新的变异,但没有发现明显的基因型-表型相关性.

关键词:
在 SSADH 缺陷中.演变的现象型 演变的现象型遗传频谱 遗传频谱是什么?在分析中进行分析.长期的后续跟进.

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