Associated Papers
Mucopolysaccharidoses: A biochemical study under limited resources.
Bouzid F et al.
Molecular Genetics and Metabolism Reports, 2025
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
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).
Lee-Chen GJ et al.
Clinical Genetics, 2002
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
Yogalingam G et al.
Human Mutation, 2001
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
Di Natale P et al.
Human Mutation, 1998
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