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Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II

Journal of human genetics, 2005-09, Vol.50 (8), p.395-402

2005

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Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients

Brain & development (Tokyo. 1979), 2002-04, Vol.24 (3), p.170-173

2002

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Enzymes of ketone body utilization in human tissues : Protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases

Pediatric research, 1997-10, Vol.42 (4), p.498-502

1997

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Missense Models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of Murine Mucopolysaccharidosis Type VII Produced by Targeted Mutagenesis

Proceedings of the National Academy of Sciences - PNAS, 2002-11, Vol.99 (23), p.14982-14987

2002

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Scheie syndrome (MPS‐IS) presented as bilateral trigger thumb

Pediatrics international, 2003-02, Vol.45 (1), p.91-92

2003

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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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Morquio disease: Isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

Biochemical and biophysical research communications, 1991-12, Vol.181 (2), p.677-683

1991

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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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New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome

Journal of human genetics, 1998-02, Vol.43 (1), p.59-61

1998

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N-Acetylgalactosamine-6-Sulfate Sulfatase in Human Placenta: Purification and Characteristics

Journal of biochemistry (Tokyo), 1991-12, Vol.110 (6), p.965-970

1991

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New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new Ncil site the same as L444P

Human molecular genetics, 1994-07, Vol.3 (7), p.1183-1184

1994

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Mucopolysaccharidosis IV A: Assignment of the Human N-Acetylgalactosamine-6-Sulfate Sulfatase (GALNS) Gene to Chromosome 16q24

Genomics (San Diego, Calif.), 1993-06, Vol.16 (3), p.777-778

1993

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Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients

Human mutation, 1995, Vol.6 (2), p.136-143

1995

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Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele

Human mutation, 1997, Vol.10 (5), p.361-367

1997

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Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes

Human molecular genetics, 2000-05, Vol.9 (9), p.1283-1290

2000

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Mass screening test for mucopolysaccharidoses using the 1,9-dimethylmethylene blue method

Clinica chimica acta, 1997-08, Vol.264 (2), p.245-250

1997

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Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype

Human genetics, 2003-07, Vol.113 (2), p.162-169

2003

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Purification and Partial Characterization of α-N-Acetylglucosaminidase from Human Liver

Journal of biochemistry (Tokyo), 1991-11, Vol.110 (5), p.842-846

1991

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Evaluation of accumulated mucopolysaccharides in the brain of patients with mucopolysaccharidoses by (1)H-magnetic resonance spectroscopy before and after bone marrow transplantation

Pediatric research, 2001-03, Vol.49 (3), p.349-355

2001

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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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Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro

Human gene therapy, 2001-11, Vol.12 (16), p.2007-2016

2001

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Production of MPS VII mouse (Gustm(hE540A·mE536A)Sly) doubly tolerant to human and mouse β-glucuronidase

Human molecular genetics, 2003-05, Vol.12 (9), p.961-973

2003

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Femoral head dysplasia in Morquio disease type A: Bilateral varus osteotomy of the femur

Acta orthopaedica, 2001, Vol.72 (1), p.18-21

2001

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Acid sphingomyelinase is not essential for the IL-1 and tumor necrosis factor receptor signaling pathway leading to NFkB activation

International immunology, 1994-08, Vol.6 (8), p.1269-1272

1994

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Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II

Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients

Enzymes of ketone body utilization in human tissues : Protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases

Missense Models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of Murine Mucopolysaccharidosis Type VII Produced by Targeted Mutagenesis

Scheie syndrome (MPS‐IS) presented as bilateral trigger thumb

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

Morquio disease: Isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

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

New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome

N-Acetylgalactosamine-6-Sulfate Sulfatase in Human Placenta: Purification and Characteristics

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new Ncil site the same as L444P

Mucopolysaccharidosis IV A: Assignment of the Human N-Acetylgalactosamine-6-Sulfate Sulfatase (GALNS) Gene to Chromosome 16q24

Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients

Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes

Mass screening test for mucopolysaccharidoses using the 1,9-dimethylmethylene blue method

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype

Purification and Partial Characterization of α-N-Acetylglucosaminidase from Human Liver

Evaluation of accumulated mucopolysaccharides in the brain of patients with mucopolysaccharidoses by (1)H-magnetic resonance spectroscopy before and after bone marrow transplantation

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

Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro

Production of MPS VII mouse (Gustm(hE540A·mE536A)Sly) doubly tolerant to human and mouse β-glucuronidase

Femoral head dysplasia in Morquio disease type A: Bilateral varus osteotomy of the femur

Acid sphingomyelinase is not essential for the IL-1 and tumor necrosis factor receptor signaling pathway leading to NFkB activation

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