Associated Papers
Epigenetic landscape in lysosomal storage disorders: mechanisms and modulation.
Leal AF et al.
Frontiers in Genetics, 2025
Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA.
Vargas-López V et al.
Scientific Reports, 2024
Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells.
Huang W et al.
Experimental Cell Research, 2021
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Novel therapies for mucopolysaccharidosis type III.
Seker Yilmaz B et al.
Journal of Inherited Metabolic Disease, 2021
Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations.
Shafaat M et al.
Metabolic Brain Disease, 2019
An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene.
Huang W et al.
Stem Cell Research, 2019
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
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.
Clark WT et al.
Plos One, 2018
29979746 (PubMed )
Supplement: pone.0200008.s004.xlsx › Sheet1
A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.
Mauri V et al.
Plos One, 2013
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
Emre S et al.
Human Mutation, 2002
NAGLU mutations underlying Sanfilippo syndrome type B.
Schmidtchen A et al.
American Journal of Human Genetics, 1998
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