ArticleExperimental and therapeutic medicine2019
Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations.
Article in Experimental and therapeutic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 11 citations in OpenAlex.
- Quantifying attention in children with intellectual and developmental disabilities through multicenter electrooculogram signal analysis.Scientific reports · 2024Article
- Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.Genome biology · 2023Article
- Whole exome sequencing identified five novel variants inFrontiers in genetics · 2023Article
- Rare Diseases in Glycosphingolipid Metabolism.Advances in experimental medicine and biology · 2022Article
- Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.Journal of molecular neuroscience : MN · 2021Article
- Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.Journal of molecular neuroscience : MN · 2021Article
- Case Report: Novel Arylsulfatase A (Frontiers in neurology · 2020Article
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8 authors at 2 institutions in 1 country.
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Abstract
Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive lysosomal storage disease. The disease is primarily caused by a deficiency in the enzyme arylsulfatase A (ASA), which is encoded by the ARSA gene. A total of 254 mutations have been reported in different populations. The present study aimed to detect causative gene mutations in an atypical case presenting with attention deficit hyperactivity disorder through whole-exome sequencing. Of note, the patient's mother is from a consanguineous family. Compound heterozygous variants (c.1297C>G) + (c.1345G>A) [(p.Leu433Val) + (p.Gly449Arg)] were identified in exon 8 in the ARSA gene of the pediatric patient. The two missense mutations identified have not been previously reported, to the best of our knowledge. Furthermore, an
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