172 results on '"Okuyama, Torayuki"'
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2. Efficacy and safety of combination of HSCT & ICV ERT for neuropathic mucopolysaccharidosis type II
3. Quantitative determination of glycosaminoglycans in dried blood spots for second-tier screening of mucopolysaccharidoses
4. Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II
5. Intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II: Final report of 5-year results from a Japanese open-label phase 1/2 study
6. A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation
7. Automated urinary sediment detection for Fabry disease using deep-learning algorithms
8. LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots
9. 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
10. Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
11. Development of a Highly Sensitive and Rapid Liquid Chromatography–Tandem Mass Spectrometric Method Using a Basic Mobile Phase Additive to Determine the Characteristics of the Urinary Metabolites for Niemann–Pick Disease Type C
12. The Mucopolysaccharidoses
13. Physiology and Pathophysiology of Heparan Sulfate in Animal Models: Its Biosynthesis and Degradation
14. Long term efficacy and safety of pabinafusp-alfa (JR-141) in Hunter syndrome (MPS-II): 104-week data from the clinical trials in Japan and Brazil
15. Newborn screening for Fabry disease is useful for early diagnosis of the family members who are affected but are not yet diagnosed
16. Current status of newborn screening for lysosomal diseases in Japan: Importance of novel therapies for central nervous system manifestation in MPS II, and importance of family screening of Fabry disease after newborn screening
17. cDNA analysis disclosed presumable discordance of genotype-phenotype correlation in a patient with attenuated MPS II having 76 base deletions in the gene for iduronate-2-sulfatase
18. Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course
19. The need for home enzyme replacement therapy for patients with lysosomal disease in Japan
20. Generation of therapeutic iduronate-2-sulfatase enzyme using a novel RNA virus vector
21. Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II
22. Automated Urinary Sediment Detection for Fabry Disease Using Deep-Learning Algorithms
23. Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data
24. Production of therapeutic iduronate‐2‐sulfatase enzyme with a novel single‐stranded RNA virus vector
25. Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: an Integrated Analysis of Preclinical and Clinical Data
26. Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan
27. Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II
28. Prevention of cognitive decline in patients with neuronopathic mucopolysaccharidosis type II treated by intracerebroventricular enzyme replacement therapy: 100-week results of an open-label phase 1/2 study
29. A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II
30. Exploration of the efficacy of pabinafusp-alfa (JR-141) on neurocognitive development in Hunter syndrome (MPS II): 52-week data from clinical trials in Japan and Brazil
31. Drug delivery across the blood-brain barrier and resultant reduction of heparan sulfate in the cerebrospinal fluid in the patients with Hunter syndrome (MPS II): An integrated analysis of 25-week Japanese and Brazilian data on pabinafusp alfa (JR-141)
32. Guide for diagnosis and treatment of hyperphenylalaninemia
33. A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase
34. A survey on transition from pediatric to adult care for patients with Wilson disease
35. Long-Chain Base (LCB)-Targeted Lipidomics Study Uncovering the Presence of a Variety of LCBs in Mammalian Blood
36. Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course
37. Development of a Diagnostic Screening Strategy for Niemann–Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholine-serine and Sphingosylphosphorylcholine
38. Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies
39. Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry
40. Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency
41. Successful prevention and stabilization of cognitive decline in Japanese patients with neuronopathic mucopolysaccharidosis type II treated by intracerebroventricular enzyme replacement therapy: Results of the Phase I/II clinical trial for two years
42. Therapy for mucopolysaccharidosis type II with an intravenous blood-brain barrier-crossing enzyme (JR-141): 26-week results from a phase 3 study in Japan suggesting significant efficacy against central nervous system and systemic symptoms
43. Multiplex measurement of lysosomal disease enzyme activity using LC-MS/MS
44. Novel Enzyme Replacement Therapies for Neuropathic Mucopolysaccharidoses
45. Normal early development in siblings with novel compound heterozygous variants in ASPM
46. Biosynthesis of long chain base in sphingolipids in animals, plants and fungi
47. Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C
48. Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion
49. Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
50. Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings
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