Mitochondrial pyruvate carrier deficiency : 3 cases report and literature review

Objective: To analyze the clinical and genetic features of patients with mitochondrial pyruvate carrier deficiency (MPYCD). Methods: This was a case series research. The clinical data, genetic characteristics, and glutamine treatment efficacy of 3 patients diagnosed with MPYCD at the Department of N...

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Veröffentlicht in:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 61(2023), 11 vom: 02. Nov., Seite 995-1000
1. Verfasser:	Jiang, H F (VerfasserIn)
Weitere Verfasser:	Fang, F, Liu, Z M, Xu, C L, Zhao, P Q, Fu, X L
Format:	Online-Aufsatz
Sprache:	Chinese
Veröffentlicht:	2023
Zugriff auf das übergeordnete Werk:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:	Review Case Reports English Abstract Journal Article Glutamine 0RH81L854J Lactates Monocarboxylic Acid Transporters Pyruvates