Associated Papers
[Mitochondrial pyruvate carrier deficiency: 3 cases report and literature review].
Jiang HF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2023
Generation of an induced pluripotent stem cell line (BCHNCi003-A) from a patient with mitochondrial pyruvate carrier deficiency caused by biallelic MPC1 mutations.
Jiang H et al.
Stem Cell Research, 2023
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.
Jiang H et al.
Journal of Inherited Metabolic Disease, 2022
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