Associated Papers
Mucopolysaccharidoses: A biochemical study under limited resources.
Bouzid F et al.
Molecular Genetics and Metabolism Reports, 2025
Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients.
Fateen E et al.
Orphanet Journal of Rare Diseases, 2025
VarMeter: a prediction method for the impact of glycogene variants.
Ohno S et al.
Journal of Human Genetics, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Mucopolysaccharidoses types I and IIIA: Diagnosis and identification of novel polymorphisms associated with common mutations in Moroccan patients.
El Fissi H et al.
Molecular Genetics and Metabolism Reports, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families.
Zabihi R et al.
Frontiers in Genetics, 2024
Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.
Kim MS et al.
Journal of Personalized Medicine, 2022
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.
Sun Y et al.
Bmc Medical Genomics, 2021
Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.
Kadali S et al.
Molecular and Cellular Biochemistry, 2019
Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.
Ouesleti S et al.
World Journal of Pediatrics : Wjp, 2017
A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).
Ugrinov KG et al.
Plos One, 2015
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Sidhu NS et al.
Acta Crystallographica. Section D, Biological Crystallography, 2014
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.
Ouesleti S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
[Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)].
Zhang WM et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
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
Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.
Esposito S et al.
Biochimica Et Biophysica Acta, 2000
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
Di Natale P et al.
Human Mutation, 1998
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
Montfort M et al.
Human Mutation, 1998