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Publications by E. Torrieri

In Silico Analysis of Mutations Occurring in the Protein N-Acetylgalactosamine-6-Sulfatase (GALNS) and Causing Mucopolysaccharidosis IVA

Genetics and Molecular Research

Molecular Biology

English

Related publications

Mucopolysaccharidosis Type IVA. N-Acetylgalactosamine-6-Sulfate Sulfatase Exonic Point Mutations in Classical Morquio and Mild Cases.

Journal of Clinical Investigation

English

Recombinant Human N-Acetylgalactosamine-6-Sulfate Sulfatase (GALNS) Produced in the Methylotrophic Yeast Pichia Pastoris

Scientific Reports

Multidisciplinary

English

Identification and in Silico Analysis of GALNS Mutations Causing Morquio a Syndrome in Eight Consanguineous Families

Turkish Journal of Biology

Molecular Biology

Biological Sciences

English

Distinct Effects ofN-Acetylgalactosamine-4-sulfatase and Galactose-6-Sulfatase Expression on Chondroitin Sulfates

Journal of Biological Chemistry

Molecular Biology

English

Role of Elosulfase Alfa in Mucopolysaccharidosis IVA

The Application of Clinical Genetics

English

Arylsulfatase B (N-Acetylgalactosamine-4-Sulfatase): Potential Role as a Biomarker in Prostate Cancer

Prostate Cancer and Prostatic Diseases

Cancer Research

English

AB036. Cardiac Features in Taiwanese Patients With Mucopolysaccharidosis IVA

Annals of Translational Medicine

English

Disease-Causing Mutations in Proteins: Structural Analysis of the CYP1b1 Mutations Causing Primary Congenital Glaucoma in Humans

Biophysical Journal

English

The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A

Journal of Molecular Biology

Structural Biology

Molecular Biology

English