Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c.1828G > A mutations

Pyruvate carboxylase (PC) deficiency (MIM# 266150) is an autosomal recessive disorder with three subtypes. Patients homozygous for the c.1828G > A mutation in the PC gene belong to type A, which typically has infantile onset, severe to profound developmental delay, hypotonia, and lactic acidemia....

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Detalles Bibliográficos
Autores principales: Mhanni, Aizeddin A., Rockman‐Greenberg, Cheryl, Ryner, Lawrence, Bunge, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411104/
https://www.ncbi.nlm.nih.gov/pubmed/34485016
http://dx.doi.org/10.1002/jmd2.12235

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411104/
https://www.ncbi.nlm.nih.gov/pubmed/34485016
http://dx.doi.org/10.1002/jmd2.12235

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