Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency

To summarize the clinical and genetic characteristics of children with β-ketothiolase deficiency (BKTD). The clinical characteristics, biochemical, markers detected by tandem mass spectrometry (MS/MS) and gas chromatography-mass spectrometry (GC/MS), as well as the variants in ACAT1 gene among 5 chi...

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Veröffentlicht in:	Zhonghua er ke za zhi 2024-01, Vol.62 (1), p.66-70
Hauptverfasser:	Zhang, J, Yu, C W, Wang, M, Wan, K X, Yang, J, Yuan, Z J, Liao, Z H, Wang, D J
Format:	Artikel
Sprache:	chi
Schlagworte:	Acidosis Carnitine Child Child, Preschool Female Humans Infant Male Retrospective Studies Tandem Mass Spectrometry
Online-Zugang:	Volltext
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