Torayuki Okuyama

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Publications in SciGraph latest 50 shown

  • 2018-11 The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2018 P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler–Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years in JIMD REPORTS, VOLUME 41
  • 2017-11 Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis in PEDIATRIC RADIOLOGY
  • 2016-12 BRAF V600 mutations in Langerhans cell histiocytosis with a simple and unique assay in DIAGNOSTIC PATHOLOGY
  • 2014-12 Overcoming the barriers to diagnosis of Morquio A syndrome in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-10 The natural history of MPS I: global perspectives from the MPS I Registry in GENETICS IN MEDICINE
  • 2012-06 Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry in EUROPEAN JOURNAL OF PEDIATRICS
  • 2011-12 Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation in BMC MEDICAL GENETICS
  • 2011-02 Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies in JOURNAL OF HUMAN GENETICS
  • 2009-03 Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation in JOURNAL OF HUMAN GENETICS
  • 2008-05 Structural study on mutant α-L-iduronidases: insight into mucopolysaccharidosis type I in JOURNAL OF HUMAN GENETICS
  • 2007-04-26 Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis in JOURNAL OF HUMAN GENETICS
  • 2006-04 EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions in PEDIATRIC NEPHROLOGY
  • 2005-04 Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2003-09 CrmA gene expression protects mice against concanavalin-A-induced hepatitis by inhibiting IL-18 secretion and hepatocyte apoptosis in GENE THERAPY
  • 2003-03 Long-term normalization in the central nervous system, ocular manifestations, and skeletal deformities by a single systemic adenovirus injection into neonatal mice with mucopolysaccharidosis VII in GENE THERAPY
  • 2003-02 A novel strategy for in vivo expansion of transplanted hepatocytes using preparative hepatic irradiation and FasL-induced hepatocellular apoptosis in GENE THERAPY
  • 2001-04 Long-term Graft Acceptance in Rat Heart Transplantation by CTLA4Ig Gene Transfection Combined with FTY720 Treatment in WORLD JOURNAL OF SURGERY
  • 2000-05-01 Human amniotic epithelial cells are promising transgene carriers for allogeneic cell transplantation into liver in JOURNAL OF HUMAN GENETICS
  • 1998-08 Efficient Fas-ligand gene expression in rodent liver after intravenous injection of a recombinant adenovirus by the use of a Cre-mediated switching system in GENE THERAPY
  • 1996-06 PAX6 missense mutation in isolated foveal hypoplasia in NATURE GENETICS
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