Associated Papers
Deficiency of alkaline ceramidase 3 with infancy-onset progressive leukoencephalopathy: a second case report.
Kilic H et al.
Acta Neurologica Belgica, 2021
ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.
Dehnavi AZ et al.
Human Genomics, 2021
Structure of a human intramembrane ceramidase explains enzymatic dysfunction found in leukodystrophy.
Vasiliauskaité-Brooks I et al.
Nature Communications, 2018
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.
Edvardson S et al.
Journal of Medical Genetics, 2016
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