Associated Papers
Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.
Al Khudari R et al.
Orphanet Journal of Rare Diseases, 2025
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
Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial.
Tardieu M et al.
Human Gene Therapy, 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
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
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