Associated Papers
Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families.
Zabihi R et al.
Frontiers in Genetics, 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
An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan.
Lin HY et al.
Diagnostics (basel, Switzerland), 2019
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline.
Shi L et al.
Bmc Medical Genomics, 2014
Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
Lee-Chen GJ et al.
Journal of Medical Genetics, 2002
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