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

Mhanni, Aizeddin A; Rockman-Greenberg, Cheryl; Ryner, Lawrence; Bunge, Martin

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

Mhanni, Aizeddin A; Rockman-Greenberg, Cheryl; Ryner, Lawrence; Bunge, Martin.

Afiliación

Mhanni AA; Department of Pediatrics and Child Health Max Rady College of Medicine, Rady Faculty of Health Sciences Winnipeg Canada.
Rockman-Greenberg C; Department of Pediatrics and Child Health Max Rady College of Medicine, Rady Faculty of Health Sciences Winnipeg Canada.
Ryner L; Research Institute in Oncology and Hematology, Cancer Care Manitoba Winnipeg Canada.
Bunge M; Department of Radiology, Rady Faculty of Health Sciences, Max Rady College of Medicine University of Manitoba Winnipeg Canada.

JIMD Rep ; 61(1): 42-47, 2021 Sep.

Article en En | MEDLINE | ID: mdl-34485016

Palabras clave

brain morphogenesis; lactic acidosis; neuroimaging; prenatal onset; pyruvate carboxylase

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: JIMD Rep Año: 2021 Tipo del documento: Article