Pathogenic Variants in <i>GALC</i> Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature.

Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature.

Bascou, Nicholas A; Beltran-Quintero, Maria L; Escolar, Maria L.

Afiliação

Bascou NA; Program for the Study of Neurodevelopment in Rare Disorders and Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, United States.
Beltran-Quintero ML; Program for the Study of Neurodevelopment in Rare Disorders and Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, United States.
Escolar ML; Program for the Study of Neurodevelopment in Rare Disorders and Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, United States.

Front Neurol ; 11: 563724, 2020.

Article em En | MEDLINE | ID: mdl-33178108