A case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.

Pyruvate carboxylase deficiency (PCD) is a rare autosomal recessive defect in a biotin-containing enzyme, Pyruvate carboxylase, which is considered as an enzyme of TCA-cycle regulation, gluconeogenesis, lipogenesis, and biosynthesis of neurotransmitters. Increased lactate to pyruvate ratio and decre...

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Autores principales: shahin koohmanaee, nejat mahdie, Reza Bayat, fatemeh kharaee, Maryam Shahrokhi, Afagh Hassanzadeh Rad, Saber Najafi Chakoosari, setila dalili
Formato: article
Lenguaje:EN
Publicado: Tehran University of Medical Sciences 2021
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Acceso en línea:https://doaj.org/article/3f37d69eae9943418301184ba3607a54
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