Associated Papers
Genetic features of patients with MPS type IIIB: Description of five pathogenic gene variations.
Nasir Shalal M et al.
Gene, 2024
Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families.
Zabihi R et al.
Frontiers in Genetics, 2024
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations.
Ozkinay F et al.
Molecular Genetics and Metabolism Reports, 2021
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
Emre S et al.
Human Mutation, 2002
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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