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Obstructive airway in Morquio A syndrome, the past, the present and the future

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.150-156

2016

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Pathogenesis of Morquio A syndrome: An autopsied case reveals systemic storage disorder

Molecular genetics and metabolism, 2013-07, Vol.109 (3), p.301-311

2013

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Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I

Journal of inherited metabolic disease, 2010-04, Vol.33 (2), p.141-150

2010

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Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis

Molecular genetics and metabolism, 2018-09, Vol.125 (1-2), p.44-52

2018

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Psychological status of patients with mucopolysaccharidosis type II and their parents

Pediatrics international, 2009-02, Vol.51 (1), p.41-47

2009

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Growth impairment in mucopolysaccharidoses

Molecular genetics and metabolism, 2018-05, Vol.124 (1), p.1-10

2018

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Evaluation of ADL in patients with Hunter disease using FIM score

Brain & development (Tokyo. 1979), 2007-06, Vol.29 (5), p.298-305

2007

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Hematopoietic stem cell transplantation for Morquio A syndrome

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.84-94

2016

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Mucopolysaccharidosis IVA and glycosaminoglycans

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.78-95

2017

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Activities of daily living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.161-169

2015

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Japan Elaprase ® Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)

Molecular genetics and metabolism, 2010, Vol.99 (1), p.18-25

2010

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Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses

Molecular genetics and metabolism, 2017-03, Vol.120 (3), p.247-254

2017

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Growth charts for patients affected with Morquio A disease

American journal of medical genetics. Part A, 2008-05, Vol.146A (10), p.1286-1295

2008

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Epidemiology of X-linked adrenoleukodystrophy in Japan

Journal of human genetics, 2002-01, Vol.47 (11), p.590-593

2002

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Inherited Complete Deficiency of 20-Kilodalton Homologous Restriction Factor (CD59) as a Cause of Paroxysmal Nocturnal Hemoglobinuria

The New England journal of medicine, 1990-10, Vol.323 (17), p.1184-1189

1990

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Purification and Properties of Rat Liver Peroxisomal Very-Long-Chain Acyl-CoA Synthetase

Journal of biochemistry (Tokyo), 1996-03, Vol.119 (3), p.565-571

1996

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Improvement of neurological symptoms by enzyme replacement therapy for Gaucher disease type IIIb

European journal of pediatrics, 2001-01, Vol.160 (1), p.63-64

2001

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Non-invasive pulmonary function test on Morquio patients

Molecular genetics and metabolism, 2015-08, Vol.115 (4), p.186-192

2015

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Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

Human molecular genetics, 1995-03, Vol.4 (3), p.341-349

1995

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A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA

Human genetics, 1997-11, Vol.101 (1), p.97-101

1997

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Development of MPS IVA mouse (Galnstm(hC79S·mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase

Human molecular genetics, 2005-11, Vol.14 (22), p.3321-3335

2005

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Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells

Human genetics, 1992-03, Vol.88 (5), p.491-499

1992

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Two different pathological conditions of photoparoxysmal responses in hereditary dentatorubral-pallidoluysian atrophy

Brain & development (Tokyo. 1979), 1997-06, Vol.19 (4), p.285-289

1997

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Defining the Pathway for Tat-mediated Delivery of β-Glucuronidase in Cultured Cells and MPS VII Mice

Molecular therapy, 2005-08, Vol.12 (2), p.345-352

2005

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Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients

Human mutation, 1995, Vol.5 (1), p.34-42

1995

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Obstructive airway in Morquio A syndrome, the past, the present and the future

Pathogenesis of Morquio A syndrome: An autopsied case reveals systemic storage disorder

Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I

Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis

Psychological status of patients with mucopolysaccharidosis type II and their parents

Growth impairment in mucopolysaccharidoses

Evaluation of ADL in patients with Hunter disease using FIM score

Hematopoietic stem cell transplantation for Morquio A syndrome

Mucopolysaccharidosis IVA and glycosaminoglycans

Activities of daily living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation

Japan Elaprase ® Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)

Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses

Growth charts for patients affected with Morquio A disease

Epidemiology of X-linked adrenoleukodystrophy in Japan

Inherited Complete Deficiency of 20-Kilodalton Homologous Restriction Factor (CD59) as a Cause of Paroxysmal Nocturnal Hemoglobinuria

Purification and Properties of Rat Liver Peroxisomal Very-Long-Chain Acyl-CoA Synthetase

Improvement of neurological symptoms by enzyme replacement therapy for Gaucher disease type IIIb

Non-invasive pulmonary function test on Morquio patients

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA

Development of MPS IVA mouse (Galnstm(hC79S·mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase

Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells

Two different pathological conditions of photoparoxysmal responses in hereditary dentatorubral-pallidoluysian atrophy

Defining the Pathway for Tat-mediated Delivery of β-Glucuronidase in Cultured Cells and MPS VII Mice

Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients

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