Associated Papers
Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants.
Kaymakcalan Celebiler H et al.
Molecular Syndromology, 2025
Association of certain biochemical parameters related to bone cycle with genotype in MPS IIIB patients.
Gökkurt S et al.
Turkish Journal of Medical Sciences, 2025
Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.
Noyan B et al.
Molecular Syndromology, 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
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Sudrié-Arnaud B et al.
Diagnostics (basel, Switzerland), 2021
33673364 (PubMed )
Supplement: diagnostics-11-00294-s001.xlsx › TableS1
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