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Shunji Tomatsu Selected Research

Mucopolysaccharidosis VII (Sly Syndrome)

2/2020Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis.
5/2017Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.
9/2012Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model.
4/2009Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
6/2008Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice.
10/2006Enzyme therapy in mannose receptor-null mucopolysaccharidosis VII mice defines roles for the mannose 6-phosphate and mannose receptors.
5/2003Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase.
11/2002Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.

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Shunji Tomatsu Research Topics

Disease

67Mucopolysaccharidoses
06/2022 - 07/2003
49Mucopolysaccharidosis IV (Morquio Syndrome)
11/2021 - 07/2003
16Lysosomal Storage Diseases (Lysosomal Storage Disease)
03/2020 - 05/2003
10Mucopolysaccharidosis I (Hurler Syndrome)
10/2021 - 04/2010
9Mucopolysaccharidosis II (Hunter Syndrome)
01/2020 - 01/2014
8Mucopolysaccharidosis VII (Sly Syndrome)
02/2020 - 11/2002
7Disease Progression
01/2019 - 02/2010
4Inborn Genetic Diseases (Disease, Hereditary)
01/2019 - 03/2015
3Mucopolysaccharidosis III (Sanfilippo Syndrome)
01/2022 - 03/2020
3Mucolipidoses (Sialidosis)
07/2021 - 02/2010
3Infections
01/2020 - 01/2014
3Body Weight (Weight, Body)
02/2015 - 03/2008
2Metabolic Diseases (Metabolic Disease)
08/2021 - 10/2019
2Neuroinflammatory Diseases
02/2020 - 12/2019
2Inflammation (Inflammations)
01/2016 - 03/2014
2Congenital Abnormalities (Deformity)
03/2015 - 02/2015
2Hypophosphatasia
03/2014 - 07/2006
2Developmental Bone Diseases (Bone Dysplasia)
03/2013 - 12/2012
2Hemochromatosis (Bronze Diabetes)
12/2003 - 03/2002
1Hematologic Diseases (Blood Diseases)
06/2022
1Memory Disorders (Memory Loss)
01/2022
1Vomiting
08/2021
1Hypoglycemia (Reactive Hypoglycemia)
08/2021
1Epilepsy (Aura)
08/2021
1Acidosis
08/2021
1Muscular Diseases (Myopathy)
08/2021
1Rare Diseases (Rare Disease)
05/2021
1Osteoporosis
10/2020
1Gliosis
02/2020
1Inguinal Hernia (Direct Inguinal Hernia)
01/2020
1Neurologic Manifestations (Neurological Manifestations)
12/2019
1Type II Macular Corneal Dystrophy
12/2019
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
07/2019
1Hearing Loss (Hearing Impairment)
01/2019
1Sensorineural Hearing Loss
01/2019
1Cryptorchidism (Undescended Testes)
01/2018
1Graft vs Host Disease (Graft-Versus-Host Disease)
10/2017
1Airway Obstruction (Choking)
10/2016
1Coarse facial features
02/2015
1Umbilical Hernia (Omphalocele)
02/2015
1Bone Diseases (Bone Disease)
02/2015
1Intellectual Disability (Idiocy)
02/2015

Drug/Important Bio-Agent (IBA)

41EnzymesIBA
08/2021 - 07/2003
36GlycosaminoglycansIBA
08/2021 - 02/2010
26Keratan SulfateIBA
07/2021 - 12/2003
26SulfatasesIBA
07/2021 - 07/2003
14Biomarkers (Surrogate Marker)IBA
08/2021 - 08/2004
9Heparitin Sulfate (Heparan Sulfate)IBA
01/2022 - 02/2010
8Proteins (Proteins, Gene)FDA Link
06/2022 - 03/2002
8Iduronidase (alpha-L-Iduronidase)IBA
10/2021 - 04/2010
5Dermatan SulfateIBA
07/2021 - 02/2010
5GlucuronidaseIBA
01/2014 - 11/2002
4DisaccharidesIBA
09/2016 - 02/2010
3OligopeptidesIBA
10/2020 - 06/2008
3human GALNS proteinIBA
10/2019 - 11/2005
3Chondroitin Sulfates (Chondroitin Sulfate)IBA
02/2016 - 09/2010
2N-acetylglucosamine-6-sulfataseIBA
11/2021 - 02/2020
2Iduronic Acid (Iduronate)IBA
07/2021 - 01/2018
2mutalipocin IIIBA
07/2021 - 02/2010
2HydrolasesIBA
07/2021 - 01/2017
2Pentosan Sulfuric Polyester (Pentosan Polysulfate)FDA Link
12/2019 - 01/2016
2Indicators and Reagents (Reagents)IBA
01/2018 - 01/2018
2Anesthetics (Anesthetic Agents)IBA
01/2015 - 12/2012
2Alkaline PhosphataseIBA
03/2014 - 07/2006
2Complementary DNA (cDNA)IBA
09/2010 - 08/2004
2IronIBA
12/2003 - 03/2002
1Busulfan (Busulfex)FDA Link
06/2022
1AcetyltransferasesIBA
01/2022
1Glucosamine (Dona)IBA
01/2022
1Acetyl Coenzyme A (Acetyl-CoA)IBA
01/2022
1Fatty Acids (Saturated Fatty Acids)IBA
08/2021
1AcetylglucosamineIBA
07/2021
1Acetylglucosaminidase (NAGase)IBA
07/2021
1Diphosphonates (Bisphosphonates)IBA
10/2020
1Pharmaceutical PreparationsIBA
10/2020
1sialogangliosidesIBA
02/2020
1LipidsIBA
10/2019
1keratan-sulfate endo-1,4-beta-galactosidaseIBA
08/2019
1Collagen Type II (Type II Collagen)IBA
06/2019
1Epidermal Growth Factor (EGF)IBA
06/2019
1Interleukin-6 (Interleukin 6)IBA
06/2019
1Androgen Receptors (Androgen Receptor)IBA
01/2018

Therapy/Procedure

18Enzyme Replacement Therapy
06/2021 - 11/2005
18Therapeutics
02/2020 - 11/2005
10Hematopoietic Stem Cell Transplantation
02/2020 - 09/2014
5Activities of Daily Living (ADL)
11/2021 - 01/2014
3Anesthesia
06/2021 - 12/2012
3Stem Cell Transplantation
02/2020 - 01/2014
3Transplantation
01/2019 - 01/2017
2Aftercare (After-Treatment)
06/2021 - 12/2020
2Enzyme Therapy
08/2019 - 10/2006
2Bone Marrow Transplantation (Transplantation, Bone Marrow)
03/2015 - 01/2014
1Airway Management
06/2021
1Cochlear Implantation
01/2019
1Cochlear Implants (Cochlear Implant)
01/2019
1Tracheostomy
10/2016
1Secondary Prevention
03/2016
1Subcutaneous Injections
01/2016
1Wheelchairs (Wheel Chair)
08/2015
1Arthrodesis
03/2015