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List of works by Shunji Tomatsu

A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA

scientific article published on 01 November 1997

Assessment of bone dysplasia by micro‐CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII

scientific article published on September 13, 2012

Bone-Specific Drug Delivery for Osteoporosis and Rare Skeletal Disorders

scientific article published on 26 August 2020

Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation

scientific article published on February 1, 1998

Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA

scientific article published on 28 December 2020

Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: Diagnostic implications in morquio disease

scientific article published on 01 January 1998

Four novel mutations in Mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the β-glucuronidase gene that creates a novel 5'-splice site

scientific article published on 01 April 1995

Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

scientific article published on 04 August 2020

Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β 2 -microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

scientific article published on November 11, 1997

Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model

scientific article published on July 14, 2012

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: Nine novel mutations including T312S, a common allele that confers a mild phenotype

scientific article published on 01 January 1998

Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease

scientific article published on October 28, 2003

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype

scientific article published on April 30, 2003

Mucopolysaccharidosis Type IVA (Morquio A Disease): Clinical Review and Current Treatment: A Special Review

scientific article published on June 1, 2011

Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients

scientific article published on January 1, 1995

Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS)

scientific article published on April 10, 1995

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients

scientific article published on April 1, 1995

Mutation analysis in the iduronate‐2‐sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)

scientific article published on February 1, 1998

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

scientific article published on 13 November 2020

Optimization of Electroporation for Transfection of Human Fibroblast Cell Lines with Origin-Defective SV40 DNA: Development of Human Transformed Fibroblast Cell Lines with Mucopolysaccharidoses (I-VII)

scientific article published on April 1, 1992

Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA

scientific article published on 29 April 2020

Promoter considerations in the design of lentiviral vectors for use in treating lysosomal storage diseases

scientific article published in 2022

Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation

scientific article published on 01 March 1998

Various Cells Retrovirally Transduced withN-Acetylgalactosoamine-6-Sulfate Sulfatase Correct Morquio Skin FibroblastsIn Vitro

scientific article published on November 1, 2001

β-Glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis

scientific article published on 01 August 1998