Associated Papers
Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.
Yalcintepe S et al.
Molecular Syndromology, 2024
Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
Nagy A et al.
Human Gene Therapy, 2024
Sequence variants in three genes underlying leukodystrophy in Pakistani families.
Bibi F et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.pdf
Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.
Bijarnia S et al.
Indian Journal of Pediatrics, 2013
Carrier screening for Canavan disease in Australia.
Howell VM et al.
Journal of Inherited Metabolic Disease, 2004
Canavan Disease: Clinical and Laboratory Profile from Southern Part of India.
Gowda VK et al.
Annals of Indian Academy of Neurology, 0
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