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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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Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses

Molecular genetics and metabolism, 2014-09, Vol.113 (1-2), p.92-99

2014

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Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry

Molecular genetics and metabolism, 2010-02, Vol.99 (2), p.124-131

2010

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Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA

Pediatric research, 2004-04, Vol.55 (4), p.592-597

2004

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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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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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Activity of daily living for Morquio A syndrome

Molecular genetics and metabolism, 2016-06, Vol.118 (2), p.111-122

2016

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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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Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels

Molecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.129-138

2013

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Epileptic seizures and structural abnormalities in a patient with holoprosencephaly

Brain & development (Tokyo. 1979), 2001-07, Vol.23 (4), p.264-268

2001

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Epilepsy in Peroxisomal Diseases

Epilepsia (Copenhagen), 1997-02, Vol.38 (2), p.182-188

1997

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Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography–tandem mass spectrometry

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.35-42

2010

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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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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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d-3-Hydroxyacyl-CoA Dehydratase/ d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder

American journal of human genetics, 1997-11, Vol.61 (5), p.1153-1162

1997

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Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations

European journal of human genetics : EJHG, 2006-07, Vol.14 (7), p.838-845

2006

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Genetic analysis of IgE and the IGHE, IGHEP1 and IGHEP2 genes in atopic families

International archives of allergy and immunology, 1995-01, Vol.106 (1), p.62-68

1995

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Human peroxisome assembly factor-2 (PAF-2) : A gene responsible for group C peroxisome biogenesis disorder in humans

American journal of human genetics, 1996-12, Vol.59 (6), p.1210-1220

1996

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Temperature-Sensitive Phenotypes of Peroxisome-Assembly Processes Represent the Milder Forms of Human Peroxisome-Biogenesis Disorders

American journal of human genetics, 1998-06, Vol.62 (6), p.1539-1543

1998

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A Case of Glutaric Aciduria Type I with Unique Abnormalities in the Cerebral CT Findings

The Tohoku Journal of Experimental Medicine, 1987, Vol.151(3), pp.293-299

1987

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Severe Infantile Sialidosis: The Characteristics of Oligosaccharides Isolated from the Urine and the Abdominal Ascites

The Tohoku Journal of Experimental Medicine, 1992, Vol.166(4), pp.407-415

1992

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Lymphocyte responses to food antigens in patients with atopic dermatitis who are sensitive to foods

Journal of allergy and clinical immunology, 1990-08, Vol.86 (2), p.253-260

1990

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Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders

Journal of medical genetics, 1999-10, Vol.36 (10), p.779-781

1999

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Urinary organic acids in peroxisomal disorders: a simple screening method

Journal of chromatography. B, Biomedical sciences and applications, 2001-07, Vol.758 (1), p.81-86

2001

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Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders

Journal of medical genetics, 2001-12, Vol.38 (12), p.871-874

2001

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

Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses

Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA

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

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

Activity of daily living for Morquio A syndrome

Growth charts for patients affected with Morquio A disease

Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels

Epileptic seizures and structural abnormalities in a patient with holoprosencephaly

Epilepsy in Peroxisomal Diseases

Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography–tandem mass spectrometry

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

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

d-3-Hydroxyacyl-CoA Dehydratase/ d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder

Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations

Genetic analysis of IgE and the IGHE, IGHEP1 and IGHEP2 genes in atopic families

Human peroxisome assembly factor-2 (PAF-2) : A gene responsible for group C peroxisome biogenesis disorder in humans

Temperature-Sensitive Phenotypes of Peroxisome-Assembly Processes Represent the Milder Forms of Human Peroxisome-Biogenesis Disorders

A Case of Glutaric Aciduria Type I with Unique Abnormalities in the Cerebral CT Findings

Severe Infantile Sialidosis: The Characteristics of Oligosaccharides Isolated from the Urine and the Abdominal Ascites

Lymphocyte responses to food antigens in patients with atopic dermatitis who are sensitive to foods

Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders

Urinary organic acids in peroxisomal disorders: a simple screening method

Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders

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