Mei Xue
10.3389/fendo.2023.1199590
Front Endocrinol (Lausanne)
2023 Jul 7;14:1199590.
case report genetic analysis neurological injury prenatal diagnosis pyruvate carboxylase deficiency
CC BY
https://pubmed.ncbi.nlm.nih.gov/37484962/
Acidosis, Lactic Pyruvate Carboxylase Deficiency Disease / diagnosis Pyruvate Carboxylase Deficiency Disease / genetics
Acidosis, Lactic Pyruvate Carboxylase Deficiency Disease / diagnosis Pyruvate Carboxylase Deficiency Disease / genetics Case Reports Research Support, Non-U.S. Gov't Female Humans Muscle Hypotonia Pregnancy Pyruvate Carboxylase / genetics Seizures Pyruvate Carboxylase
PMC10360024
37484962
Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B
2023