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1 ensaios clínicos encontrados.
In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.
Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Generation of an induced pluripotent stem cell line (SHCDNi007-A) from a patient with pyruvate carboxylase deficiency carrying compound heterozygous (c.182 T > C/ c.2581G > A) variants in PC.
[Analysis of child with pyruvate carboxylase deficiency type A due to compound heterozygous variants of the PC gene].