Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B

BACKGROUND: Pyruvate carboxylase (PC) is a key enzyme for gluconeogenesis. PC deficiency (PCD) is an extremely rare autosomal recessive metabolic disease and is divided into three types. Type B PCD is clinically featured by lactic acidosis, hyperammonemia, hypercitrullinemia, hypotonia, abnormal mov...

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Detalles Bibliográficos
Autor principal: Xue, Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10360024/
https://www.ncbi.nlm.nih.gov/pubmed/37484962
http://dx.doi.org/10.3389/fendo.2023.1199590

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10360024/
https://www.ncbi.nlm.nih.gov/pubmed/37484962
http://dx.doi.org/10.3389/fendo.2023.1199590

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