A Rare Case of Type B Neonatal Pyruvate Carboxylase Enzyme Deficiency Presenting With Refractory Lactic Acidosis in the Early Neonatal Period.

Sharif, Saima; Velumula, Pradeep Kumar; Boddu, Praveen Kumar; Altinok, Deniz; Fernandes, Nithi

Sharif, Saima; Velumula, Pradeep Kumar; Boddu, Praveen Kumar; Altinok, Deniz; Fernandes, Nithi.

Afiliación

Sharif S; Pediatrics, Neonatal-Perinatal Medicine, Children's Hospital of Michigan/Central Michigan University College of Medicine, Detroit, USA.
Velumula PK; Pediatrics, Neonatal-Perinatal Medicine, MercyOne Waterloo Medical Center, Waterloo, USA.
Boddu PK; Pediatrics, Neonatal-Perinatal Medicine, Children's Hospital of Michigan/Central Michigan University College of Medicine, Detroit, USA.
Altinok D; Radiology, Children's Hospital of Michigan, Detroit, USA.
Fernandes N; Pediatrics, Neonatal-Perinatal Medicine, Children's Hospital of Michigan/Central Michigan University College of Medicine, Detroit, USA.

Cureus ; 14(10): e29903, 2022 Oct.

Article en En | MEDLINE | ID: mdl-36348915

Palabras clave

acidosis lactic; lactate peak; magnetic resonance spectroscopy (mrs); pyruvate carboxylase; pyruvate carboxylase enzyme deficiency; term neonate

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Cureus Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos

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