Associated Papers
Gallbladder mucinous carcinoma in a child with metachromatic leukodystrophy, case report and literature review.
Bai Q et al.
Bmc Pediatrics, 2026
Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.
Musa SA et al.
European Journal of Endocrinology, 2025
Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).
Hammoud M et al.
Genes, 2024
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Jain S et al.
Biorxiv : the Preprint Server for Biology, 2024
38798479 (PubMed )
Supplement: media-2.xlsx › Table_S1_-_activity___pred
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Trinidad M et al.
Genome Biology, 2023
37480112 (PubMed )
Supplement: 13059_2023_3001_MOESM1_ESM.xlsx › Table_S1
Marfan Syndrome Incorrectly Diagnosed as Autism.
Mares Beltran CF et al.
Pediatrics, 2023
Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.
Chen L et al.
International Journal of Genomics, 2018
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