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Safety and tolerability of agalsidase beta infusions shorter than 90 min in patients with Fabry disease: post-hoc analysis of a Japanese post-marketing study

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.209-209, Article 209

2023

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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

Biological and Pharmaceutical Bulletin, 2022/09/01, Vol.45(9), pp.1259-1268

2022

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Water intoxication: A clue to the presence of classical Fabry disease

Brain & development (Tokyo. 1979), 2022-09, Vol.44 (8), p.592-593

2022

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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

Biological and Pharmaceutical Bulletin, 2020/09/01, Vol.43(9), pp.1398-1406

2020

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A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS

PloS one, 2020-09, Vol.15 (9), p.e0238624-e0238624

2020

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Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus

Molecular genetics and metabolism reports, 2023-12, Vol.37, p.101019, Article 101019

2023

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Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data

International journal of molecular sciences, 2021-10, Vol.22 (20), p.10938

2021

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A survey on the patient journey in Fabry disease in Japan

Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100909-100909, Article 100909

2022

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Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C

Journal of lipid research, 2019-12, Vol.60 (12), p.2074-2081

2019

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Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.137-137, Article 137

2019

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Hematopoietic Stem Cell Gene Therapy Corrects Neuropathic Phenotype in Murine Model of Mucopolysaccharidosis Type II

Human gene therapy, 2015-06, Vol.26 (6), p.357-366

2015

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Clinical findings of gadolinium-enhanced cardiac magnetic resonance in Fabry patients

Journal of cardiology, 2020-01, Vol.75 (1), p.27-33

2020

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Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C

International journal of molecular sciences, 2019-10, Vol.20 (20), p.5018

2019

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Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann–Pick disease type C

Clinica chimica acta, 2019-07, Vol.494, p.58-63

2019

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Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

Neurogenetics, 2013-11, Vol.14 (3-4), p.225-232

2013

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L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease

Scientific reports, 2017-11, Vol.7 (1), p.15944-9, Article 15944

2017

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Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST)

Clinical and experimental nephrology, 2016-04, Vol.20 (2), p.284-293

2016

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Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.118-118, Article 118

2019

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A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis

Brain & development (Tokyo. 1979), 2019-05, Vol.41 (5), p.460-464

2019

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Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy

Molecular genetics and metabolism reports, 2020-09, Vol.24, p.100623, Article 100623

2020

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The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients

Molecular genetics and metabolism, 2018-06, Vol.124 (2), p.143-151

2018

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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

Biological and Pharmaceutical Bulletin, 2020-09, Vol.43 (9), p.1398-1406

2020

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Morphological features of iPS cells generated from Fabry disease skin fibroblasts using Sendai virus vector (SeVdp)

Molecular genetics and metabolism, 2013-08, Vol.109 (4), p.386-389

2013

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Human Mesenchymal Stem Cells in Rodent Whole-Embryo Culture Are Reprogrammed to Contribute to Kidney Tissues

Proceedings of the National Academy of Sciences - PNAS, 2005-03, Vol.102 (9), p.3296-3300

2005

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A neuropathological cell model derived from Niemann−Pick disease type C patient-specific iPSCs shows disruption of the p62/SQSTM1−KEAP1−NRF2 Axis and impaired formation of neuronal networks

Molecular genetics and metabolism reports, 2021-09, Vol.28, p.100784-100784, Article 100784

2021

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Safety and tolerability of agalsidase beta infusions shorter than 90 min in patients with Fabry disease: post-hoc analysis of a Japanese post-marketing study

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

Water intoxication: A clue to the presence of classical Fabry disease

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

A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS

Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus

Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data

A survey on the patient journey in Fabry disease in Japan

Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

Hematopoietic Stem Cell Gene Therapy Corrects Neuropathic Phenotype in Murine Model of Mucopolysaccharidosis Type II

Clinical findings of gadolinium-enhanced cardiac magnetic resonance in Fabry patients

Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C

Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann–Pick disease type C

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease

Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST)

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis

Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy

The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients

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

Morphological features of iPS cells generated from Fabry disease skin fibroblasts using Sendai virus vector (SeVdp)

Human Mesenchymal Stem Cells in Rodent Whole-Embryo Culture Are Reprogrammed to Contribute to Kidney Tissues

A neuropathological cell model derived from Niemann−Pick disease type C patient-specific iPSCs shows disruption of the p62/SQSTM1−KEAP1−NRF2 Axis and impaired formation of neuronal networks

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