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SHIORI TOMATSU, MD
MD
Student in an Organized Health Care Education/Training Program
NPI: 1225787351Individual
Specialties, Licenses & Credentials
Student in an Organized Health Care Education/Training ProgramPrimary
Student in an Organized Health Care Education/Training Program
Code: 390200000X
MD487581(PA)
Research & Publications (20)
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
PMID 19224584·Hum Mutat·2009
6-review
Temporal feature of BOLD responses varies with temporal patterns of movement.
PMID 18789981·Neurosci Res·2008
8-other
Enzyme replacement therapy in a murine model of Morquio A syndrome.
PMID 18056156·Hum Mol Genet·2008
7-preclinical
Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.
PMID 17498992·Mol Genet Metab·2007
7-preclinical
Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase.
PMID 17336563·Mol Genet Metab·2007
7-preclinical
Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.
PMID 16617305·Eur J Hum Genet·2006
8-other
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
PMID 16287098·Hum Mutat·2005
7-preclinical
Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
PMID 16219627·Hum Mol Genet·2005
7-preclinical
Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses.
PMID 16151906·J Inherit Metab Dis·2005
8-other
The effect of visual transformation on bimanual circling movement.
PMID 16151776·Exp Brain Res·2005
8-other
Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses.
PMID 15877208·J Inherit Metab Dis·2005
8-other
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
PMID 15309681·J Hum Genet·2004
4-observational
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.
PMID 15241807·Hum Mutat·2004
8-other
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.
PMID 15235041·J Med Genet·2004
4-observational
General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.
PMID 15146464·Hum Mutat·2004
8-other
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.
PMID 14711889·Pediatr Res·2004
8-other
Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.
PMID 14673107·Proc Natl Acad Sci U S A·2003
4-observational
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.
PMID 14583446·Hum Mol Genet·2003
7-preclinical
Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase.
PMID 12700165·Hum Mol Genet·2003
7-preclinical
Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.
PMID 12403825·Proc Natl Acad Sci U S A·2002
7-preclinical
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 3401 CIVIC CENTER BLVD
PHILADELPHIA, PA 19104 - Phone
- (215) 590-1000
Quick Facts
- NPI
- 1225787351
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 2
- Locations
- 1
- Publications
- 20
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