Associated Papers
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2026
41593770 (PubMed )
Supplement: 13023_2026_4195_MOESM3_ESM.xlsx › Enzyme_and_molecular_data
Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.
Amr K et al.
Journal of Molecular Neuroscience : Mn, 2021
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Westemeyer M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32366966 (PubMed )
Supplement: 41436_2020_807_MOESM1_ESM.docx
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.
Narayanan DL et al.
Journal of Human Genetics, 2019
Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.
Liaw HR et al.
Orphanet Journal of Rare Diseases, 2015
Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.
Shukla P et al.
Journal of the Neurological Sciences, 2011
Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.
Kang DH et al.
The Korean Journal of Laboratory Medicine, 2010
Metachromatic leukodystrophy: molecular genetics and an animal model.
Gieselmann V et al.
Journal of Inherited Metabolic Disease, 1998
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.
Daniele A et al.
American Journal of Human Genetics, 1998
The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.
Barth ML et al.
Journal of Medical Genetics, 1994
Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder.
Golchin N et al.
Genetics and Molecular Biology, 0
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