Associated Papers
Epigenetic landscape in lysosomal storage disorders: mechanisms and modulation.
Leal AF et al.
Frontiers in Genetics, 2025
Identification of Orthosteric and Allosteric Pharmacological Chaperones for Mucopolysaccharidosis Type IIIB.
Losada JC et al.
Chembiochem : a European Journal of Chemical Biology, 2024
Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA.
Vargas-López V et al.
Scientific Reports, 2024
Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient.
Vallejo-Diez S et al.
Stem Cell Research, 2018
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.
Clark WT et al.
Plos One, 2018
A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.
Mauri V et al.
Plos One, 2013
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
Yogalingam G et al.
Human Mutation, 2001
NAGLU mutations underlying Sanfilippo syndrome type B.
Schmidtchen A et al.
American Journal of Human Genetics, 1998
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