Associated Papers
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
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Medrxiv : the Preprint Server for Health Sciences, 2025
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[Natural history of mucopolysaccharidosis type III in a series of Colombian patients].
Cabarcas L et al.
Revista De Neurologia, 2024
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.
Almenabawy N et al.
American Journal of Medical Genetics. Part A, 2023
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Montenegro YHA et al.
American Journal of Medical Genetics. Part A, 2022
Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.
Chen YP et al.
Journal of Parkinson's Disease, 2021
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Structural characterization of the α-N-acetylglucosaminidase, a key enzyme in the pathogenesis of Sanfilippo syndrome B.
Birrane G et al.
Journal of Structural Biology, 2019
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).
Beesley CE et al.
Journal of Inherited Metabolic Disease, 2005
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.
Tessitore A et al.
Human Genetics, 2000
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