K. Isogai

发表

A Case Having West Syndrome after Status Epilepticus

N. Kondo, Yukitoshi Takahashi, Mizuho Watanabe, 1999 .

Bone marrow transplantation for the treatment of X-linked adrenoleukodystrophy

N. Shimozawa, N. Kondo, S. Kato, 2000, Journal of Inherited Metabolic Disease.

Successful unrelated BMT in a patient with Kostmann syndrome complicated by pre-transplant pulmonary ‘bacterial’ abscesses

H. Toyoda, H. Hori, Y. Komada, 2001, Bone Marrow Transplantation.

Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses

R. Giugliani, Y. Suzuki, S. Velez-Castrillon, 2005, Journal of Inherited Metabolic Disease.

Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)

T. Fukao, N. Kondo, S. Fukuda, 1998, Journal of Inherited Metabolic Disease.

Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

S. Fukuda, S. Tomatsu, K. Isogai, 1995, American journal of human genetics.

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

T. Fukao, S. Fukuda, S. Tomatsu, 1995, Human mutation.

Evaluation of Accumulated Mucopolysaccharides in the Brain of Patients with Mucopolysaccharidoses by 1H-Magnetic Resonance Spectroscopy before and after Bone Marrow Transplantation

H. Hoshi, N. Kondo, S. Kato, 2001, Pediatric Research.

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

W. Sly, N. Shimozawa, Yasuyuki Suzuki, 1997, Human mutation.

Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

Y. Suzuki, N. Shimozawa, N. Kondo, 1996, American journal of human genetics.

The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region.

N. Copeland, D. Gilbert, N. Jenkins, 2000, Biochimica et biophysica acta.

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients

N. Shimozawa, Yasuyuki Suzuki, S. Fukuda, 1995 .

Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease)

N. Shimozawa, Yasuyuki Suzuki, N. Kondo, 1995, Human mutation.

A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.

Y. Suzuki, N. Shimozawa, N. Kondo, 1994, Human molecular genetics.

Fifteen polymorphisms in the N‐acetylgalactosamine‐6‐sulfate sulfatase (GALNS) gene: Diagnostic implications in morquio disease

N. Shimozawa, Yasuyuki Suzuki, Z. Kato, 1998, Human mutation.

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

T. Taketani, J. Grubb, R. Giugliani, 2005, Journal of Inherited Metabolic Disease.

Ataxia telangiectasia associated with B-cell lymphoma: the effect of a half-dose of the drugs administered according to the acute lymphoblastic leukemia standard risk protocol.

Y. Suzuki, N. Shimozawa, H. Kaneko, 1998, Pediatric hematology and oncology.