FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Kazuko Sukegawa

Research Profile

Chemicals & Drugs

Disorders

Concepts & Ideas

Physiology

Co-author Network

Publications

TOP 3
Adriana Montaño; Kazuko Sukegawa; Zenichiro Kato; R Carrozzo; Paola Di Natale; E Christensen; Koji O Orii; Tadao Orii; Naomi Kondo; Shunji Tomatsu
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.
Shunji Tomatsu; Kazuko Sukegawa; Georgeta G Trandafirescu; Monica A Gutierrez; Tatsuo Nishioka; Seiji Yamaguchi; Tadao Orii; Roseline Froissart; Irène Maire; Amparo Chabas; Alan Cooper; Paola Di Natale; Andreas Gal; Akihiko Noguchi; William S Sly
Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.
Adriana Montaño; Ilkka Kaitila; Kazuko Sukegawa; Shunji Tomatsu; Zenichiro Kato; Haruki Nakamura; Seiji Fukuda; Tadao Orii; Naomi Kondo
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Kazuko Sukegawa (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2007: Adriana Montaño; Kazuko Sukegawa; Zenichiro Kato; R Carrozzo; Paola Di Natale; E Christensen; Koji O Orii; Tadao Orii; Naomi Kondo; Shunji Tomatsu
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.
Journal of inherited metabolic disease 2007;30(5):758-67.
2006: Shunji Tomatsu; Kazuko Sukegawa; Georgeta G Trandafirescu; Monica A Gutierrez; Tatsuo Nishioka; Seiji Yamaguchi; Tadao Orii; Roseline Froissart; Irène Maire; Amparo Chabas; Alan Cooper; Paola Di Natale; Andreas Gal; Akihiko Noguchi; William S Sly
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;14(7):838-45.
2003: Adriana Montaño; Ilkka Kaitila; Kazuko Sukegawa; Shunji Tomatsu; Zenichiro Kato; Haruki Nakamura; Seiji Fukuda; Tadao Orii; Naomi Kondo
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.
Human genetics 2003;113(2):162-9.
2003: Shunji Tomatsu; Koji O Orii; Carole Vogler; Jeffrey H Grubb; Elizabeth Snella; Monica Gutierrez; Tatiana Dieter; Christopher C Holden; Kazuko Sukegawa; Tadao Orii; Naomi Kondo; William S Sly
Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase.
Human molecular genetics 2003;12(9):961-73.
2002: Shunji Tomatsu; Koji O Orii; Carole Vogler; Jeffrey H Grubb; Elizabeth Snella; Monica A Gutierrez; Tatiana Dieter; Kazuko Sukegawa; Tadao Orii; Naomi Kondo; William S Sly
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 of the United States of America 2002;99(23):14982-7.
2002: Shunji Tomatsu; Koji O Orii; M Rafiq Islam; Gul N Shah; Jeffrey H Grubb; Kazuko Sukegawa; Yasuyuki Suzuki; Tadao Orii; Naomi Kondo; William S Sly
Methylation patterns of the human beta-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides.
Genomics 2002;79(3):363-75.
2001: Gabriele Toietta; Giovanni Maria Severini; Catia Traversari; Shunji Tomatsu; Kazuko Sukegawa; Seiji Fukuda; Naomi Kondo; paolo tortora; Claudio Bordignon
Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro.
Human gene therapy 2001;12(16):2007-16.
2001: Kazuko Sukegawa; Zenichiro Kato; H Nakamura
[Structural biology for understanding genotype/phenotype correlation in the genetic disorders].
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme 2001;46(12):1813-9.
2001: Yukitoshi Takahashi; Kazuko Sukegawa; M Aoki; A Ito; K Suzuki; H Sakaguchi; M Watanabe; Koji Isogai; S Mizuno; Hiroaki Hoshi; Kazuo Kuwata; Shunji Tomatsu; S Kato; T Ito; Naomi Kondo; Tadao Orii
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;49(3):349-55.
2001: Kazuko Sukegawa; Tadao Orii
[Mucopolysaccharidosis (I-VII)].
Ryōikibetsu shōkōgun shirīzu 2001;(34 Pt 2):211-4.
2000: Kazuko Sukegawa; Haruki Nakamura; Zenichiro Kato; Shunji Tomatsu; Adriana Montaño; T Fukao; Gabriele Toietta; paolo tortora; Tadao Orii; Naomi Kondo
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
Human molecular genetics 2000;9(9):1283-90.
2000: Adriana Montaño; A Yamagishi; Shunji Tomatsu; Seiji Fukuda; N G Copeland; K E Orii; Koji Isogai; N Yamada; Zenichiro Kato; N A Jenkins; D J Gilbert; Kazuko Sukegawa; Tadao Orii; Naomi Kondo
The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region.
Biochimica et biophysica acta 2000;1500(3):323-34.
2000: S Iwata; Kazuko Sukegawa; M Kokuryu; Shunji Tomatsu; Naomi Kondo; S Iwasa; Tadao Orii
Glycosaminoglycans in neonatal urine.
Archives of disease in childhood. Fetal and neonatal edition 2000;82(1):F78.
1998: Y Yamada; Kanefusa Kato; Kazuko Sukegawa; Shunji Tomatsu; S Fukuda; S Emura; S Kojima; T Matsuyama; W S Sly; Naomi Kondo; Tadao Orii
Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation.
Bone marrow transplantation 1998;21(6):629-34.
1998: Kazuko Sukegawa; T Matsuzaki; Seiji Fukuda; M Masuno; Toshiyuki Fukao; M Kokuryu; S Iwata; Shunji Tomatsu; Tadao Orii; Naomi Kondo
Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation.
Clinical genetics 1998;53(2):96-101.
1998: Koji Isogai; Kazuko Sukegawa; Shunji Tomatsu; Toshiyuki Fukao; XQ Song; Y Yamada; Seiji Fukuda; Tadao Orii; Naomi Kondo
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
Journal of inherited metabolic disease 1998;21(1):60-70.
1998: Kazuko Sukegawa; Shunji Tomatsu; Naomi Kondo; Tadao Orii
[Mucopolysaccharidosis type VII (Sly disease)].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):449-52.
1998: Kazuko Sukegawa; Shunji Tomatsu; Naomi Kondo; Tadao Orii
[Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):446-8.
1998: Kazuko Sukegawa; Shunji Tomatsu; Naomi Kondo; Tadao Orii
[Mucopolysaccharidosis type IV (Morquio syndrome, beta-galactosidase deficiency)].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):442-5.
1998: Kazuko Sukegawa; Shunji Tomatsu; Naomi Kondo; Tadao Orii
[Mucopolysaccharidosis type III (Sanfilippo syndrome)].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):439-41.
1998: Kazuko Sukegawa; Shunji Tomatsu; Naomi Kondo; Tadao Orii
[Mucopolysaccharidosis type II (Hunter syndrome)].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):435-8.
1998: Kazuko Sukegawa; Shunji Tomatsu; Naomi Kondo; Tadao Orii
[Mucopolysaccharidosis type I (Hurler syndrome, Scheie syndrome)].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):431-4.
1998: N Yamada; Seiji Fukuda; Shunji Tomatsu; V Muller; J J Hopwood; J Nelson; Zenichiro Kato; A Yamagishi; Kazuko Sukegawa; Naomi Kondo; Tadao Orii
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.
Human mutation 1998;11(3):202-8.
1998: Shunji Tomatsu; Seiji Fukuda; A Cooper; James Wraith; A Yamagishi; Zenichiro Kato; N Yamada; Koji Isogai; Kazuko Sukegawa; Yasuyuki Suzuki; Nobuyuki Shimozawa; Naomi Kondo; Tadao Orii
Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease.
Human mutation 1998;Suppl 1():S42-6.
1997: Zenichiro Kato; Seiji Fukuda; Shunji Tomatsu; H Vega; T Yasunaga; A Yamagishi; N Yamada; A Valencia; Luis A Barrera; Kazuko Sukegawa; Tadao Orii; Naomi Kondo
A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.
Human genetics 1997;101(1):97-101.
1997: Toshiyuki Fukao; XQ Song; Grant A Mitchell; Seiji Yamaguchi; Kazuko Sukegawa; Tadao Orii; Naomi Kondo
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;42(4):498-502.
1997: S Iwata; Kazuko Sukegawa; T Sasaki; M Kokuryu; S Yamasita; A Noma; S Iwasa; Naomi Kondo; Tadao Orii
Mass screening test for mucopolysaccharidoses using the 1,9-dimethylmethylene blue method: positive interference from paper diapers.
Clinica chimica acta; international journal of clinical chemistry 1997;264(2):245-50.
1997: S Fukuda; N Yamada; Shunji Tomatsu; Kazuko Sukegawa; Adriana Montaño; J J Hopwood; V Muller; Tadao Orii; Naomi Kondo
Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease.
The Japanese journal of human genetics 1997;42(2):317-22.
1997: Shunji Tomatsu; Seiji Fukuda; A Cooper; James Wraith; P Ferreira; Paola Di Natale; paolo tortora; A Fujimoto; Zenichiro Kato; N Yamada; Koji Isogai; A Yamagishi; Kazuko Sukegawa; Yasuyuki Suzuki; Nobuyuki Shimozawa; Naomi Kondo; W S Sly; Tadao Orii
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
Human mutation 1997;10(5):368-75.
1997: Kazuko Sukegawa; XQ Song; M Masuno; Toshiyuki Fukao; Nobuyuki Shimozawa; Seiji Fukuda; Koji Isogai; H Nishio; M Matsuo; Shunji Tomatsu; Naomi Kondo; Tadao Orii
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;10(5):361-7.
1996: Shunji Tomatsu; Seiji Fukuda; A Yamagishi; A Cooper; J F Wraith; T Hori; Zenichiro Kato; N Yamada; Koji Isogai; Kazuko Sukegawa; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Tadao Orii
Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.
American journal of human genetics 1996;58(5):950-62.
1996: Seiji Fukuda; Shunji Tomatsu; A Cooper; James Wraith; Zenichiro Kato; N Yamada; Koji Isogai; Kazuko Sukegawa; Naomi Kondo; Tadao Orii
Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene.
Human mutation 1996;8(2):187-90.
1996: Seiji Fukuda; Shunji Tomatsu; Mitsuo Masuno; T Ogawa; A Yamagishi; G M Rezvi; Kazuko Sukegawa; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; K Imaizumi; Y Kuroki; T Okabe; Tadao Orii
Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
Human mutation 1996;7(2):123-34.
1996: G M Rezvi; Shunji Tomatsu; Seiji Fukuda; A Yamagishi; A Cooper; James Wraith; H Iwata; Zenichiro Kato; N Yamada; Kazuko Sukegawa; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Tadao Orii
Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populations.
Journal of inherited metabolic disease 1996;19(3):301-8.
1996: A Yamagishi; Shunji Tomatsu; Seiji Fukuda; A Uchiyama; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; Kazuko Sukegawa; Tadao Orii
Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.
Human mutation 1996;7(1):23-9.
1995: Seiji Fukuda; Kazuko Sukegawa; Shunji Tomatsu; Tadao Orii
[Mucopolysaccharidoses].
Nihon rinsho. Japanese journal of clinical medicine 1995;53(12):3019-24.
1995: Shunji Tomatsu; Seiji Fukuda; A Cooper; James Wraith; G M Rezvi; A Yamagishi; N Yamada; Zenichiro Kato; Koji Isogai; Kazuko Sukegawa
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.
American journal of human genetics 1995;57(3):556-63.
1995: T Hori; Shunji Tomatsu; Y Nakashima; A Uchiyama; Seiji Fukuda; Kazuko Sukegawa; Nobuyuki Shimozawa; Yasuyuki Suzuki; Naomi Kondo; T Horiuchi
Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).
Genomics 1995;26(3):535-42.
1995: Shunji Tomatsu; Seiji Fukuda; A Cooper; James Wraith; A Uchiyama; T Hori; Y Nakashima; N Yamada; Kazuko Sukegawa; Naomi Kondo
Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences.
Human genetics 1995;95(4):376-81.
1995: Shunji Tomatsu; Seiji Fukuda; A Cooper; James Wraith; G M Rezvi; A Yamagishi; N Yamada; Zenichiro Kato; Koji Isogai; Kazuko Sukegawa
Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.
Human molecular genetics 1995;4(4):741-3.
1995: S Yamada; Shunji Tomatsu; W S Sly; R Islam; D A Wenger; Seiji Fukuda; Kazuko Sukegawa; Tadao Orii
Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.
Human molecular genetics 1995;4(4):651-5.
1995: T Ogawa; Shunji Tomatsu; Seiji Fukuda; A Yamagishi; G M Rezvi; Kazuko Sukegawa; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; T Orü
Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.
Human molecular genetics 1995;4(3):341-9.
1995: H Iwata; Shunji Tomatsu; Seiji Fukuda; A Uchiyama; G M Rezvi; T Ogawa; T Hori; Y Nakashima; A Yamagishi; Kazuko Sukegawa
Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population.
Human genetics 1995;95(3):257-64.
1995: Shunji Tomatsu; Seiji Fukuda; A Uchiyama; T Hori; Y Nakashima; Kazuko Sukegawa; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Tadao Orii
Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages.
Human genetics 1995;95(2):243-4.
1995: Shunji Tomatsu; Seiji Fukuda; A Cooper; James Wraith; N Yamada; Koji Isogai; Zenichiro Kato; Kazuko Sukegawa; Naomi Kondo; Yasuyuki Suzuki
Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).
Human mutation 1995;6(2):195-6.
1995: Kazuko Sukegawa; Shunji Tomatsu; Toshiyuki Fukao; H Iwata; XQ Song; Y Yamada; Seiji Fukuda; Koji Isogai; Tadao Orii
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
Human mutation 1995;6(2):136-43.
1994: Shunji Tomatsu; Seiji Fukuda; T Ogawa; Zenichiro Kato; Koji Isogai; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Kazuko Sukegawa; Tadao Orii
A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.
Human molecular genetics 1994;3(8):1427-8.
1994: Shunji Tomatsu; Seiji Fukuda; H Iwata; T Ogawa; Kazuko Sukegawa; Tadao Orii
XhoI and SphI RFLPs in the GALNS gene.
Human molecular genetics 1994;3(7):1208.
1994: Shunji Tomatsu; Seiji Fukuda; H Iwata; T Ogawa; Kazuko Sukegawa; Tadao Orii
Polymorphism in the GALNS gene.
Human molecular genetics 1994;3(7):1208.
1994: A Uchiyama; Shunji Tomatsu; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Seiji Fukuda; Kazuko Sukegawa; N Taki; H Inamori; Tadao Orii
New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.
Human molecular genetics 1994;3(7):1183-4.
1994: Y Nakashima; Shunji Tomatsu; T Hori; Seiji Fukuda; Kazuko Sukegawa; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Tadao Orii
Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region.
Genomics 1994;20(1):99-104.
1994: Shunji Tomatsu; Seiji Fukuda; A Uchiyama; T Hori; Y Nakashima; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Kazuko Sukegawa; Tadao Orii
Molecular analysis by Southern blot for the N-acetylgalactosamine-6-sulphate sulphatase gene causing mucopolysaccharidosis IVA in the Japanese population.
Journal of inherited metabolic disease 1994;17(5):601-5.
1993: Tadao Orii; Shunji Tomatsu; Seiji Fukuda; Kazuko Sukegawa; Naomi Kondo
[Mucopolysaccharidosis type VII: characterization of exonic point mutations and molecular heterogeneity].
Nihon rinsho. Japanese journal of clinical medicine 1993;51(9):2330-5.
1993: Y Yamada; Shunji Tomatsu; Kazuko Sukegawa; Yasuyuki Suzuki; Naomi Kondo; J J Hopwood; Tadao Orii
Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families.
Human genetics 1993;92(2):110-4.
1993: Mitsuo Masuno; Shunji Tomatsu; Y Nakashima; T Hori; Seiji Fukuda; M Masue; Kazuko Sukegawa; Tadao Orii
Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.
Genomics 1993;16(3):777-8.
1992: Seiji Fukuda; Shunji Tomatsu; M Masue; Kazuko Sukegawa; H Iwata; T Ogawa; Y Nakashima; T Hori; A Yamagishi; Y Hanyu
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
The Journal of clinical investigation 1992;90(3):1049-53.
1992: H Okamoto; Kazuko Sukegawa; Shunji Tomatsu; Yasuyuki Suzuki; Tadao Orii
Optimization of electroporation for transfection of human fibroblast cell lines with origin-defective SV40 DNA: development of human transformed fibroblast cell lines with mucopolysaccharidoses (I-VII)
Cell structure and function 1992;17(2):123-8.
1992: Kazuko Sukegawa; Shunji Tomatsu; K Tamai; M Ikeda; T Sasaki; M Masue; Seiji Fukuda; Y Yamada; Tadao Orii
Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.
Biochemical and biophysical research communications 1992;183(2):809-13.
1991: Shunji Tomatsu; Seiji Fukuda; M Masue; Kazuko Sukegawa; Toshiyuki Fukao; A Yamagishi; T Hori; H Iwata; T Ogawa; Y Nakashima
Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.
Biochemical and biophysical research communications 1991;181(2):677-83.
1991: M Masue; Kazuko Sukegawa; Tadao Orii; Takao Hashimoto
N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics.
Journal of biochemistry 1991;110(6):965-70.
1991: T Sasaki; Kazuko Sukegawa; M Masue; Seiji Fukuda; Shunji Tomatsu; Tadao Orii
Purification and partial characterization of alpha-N-acetylglucosaminidase from human liver.
Journal of biochemistry 1991;110(5):842-6.
1991: J Asano; Shunji Tomatsu; Kazuko Sukegawa; Y Ikedo; R Minami; M Iida; M Nishimura; M Nakagawa; M Ohshiro; Tadao Orii
Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophies: deletion study and carrier detection.
Clinical genetics 1991;39(6):419-24.
1991: Seiji Fukuda; Shunji Tomatsu; Kazuko Sukegawa; T Sasaki; Y Yamada; T Kuwahara; H Okamoto; Y Ikedo; S Yamaguchi; Tadao Orii
Molecular analysis of mucopolysaccharidosis type VII.
Journal of inherited metabolic disease 1991;14(5):800-4.
1991: Shunji Tomatsu; Seiji Fukuda; Kazuko Sukegawa; Y Ikedo; S Yamada; Y Yamada; T Sasaki; H Okamoto; T Kuwahara; S Yamaguchi
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.
American journal of human genetics 1991;48(1):89-96.
1990: Shunji Tomatsu; Seiji Fukuda; Kazuko Sukegawa; S Yamaguchi; T Sasaki; Y Ikedo; Tadao Orii
[Molecular basis of mucopolysaccaridosis type VII (beta-glucuronidase deficiency)].
Rinsho byori. The Japanese journal of clinical pathology 1990;38(9):1027-35.
1990: J Asano; Shunji Tomatsu; Kazuko Sukegawa; S Yamaguchi; Y Ikedo; R Minami; M Iida; M Nishimura; M Nakagawa; M Ohshiro
Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophy.
Jinrui idengaku zasshi. The Japanese journal of human genetics 1990;35(2):159-68.
1990: Shunji Tomatsu; Kazuko Sukegawa; Y Ikedo; Seiji Fukuda; Y Yamada; T Sasaki; H Okamoto; T Kuwabara; Tadao Orii
Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val.
Gene 1990;89(2):283-7.
1990: M Masuno; Shunji Tomatsu; Kazuko Sukegawa; Tadao Orii
Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form.
Human genetics 1990;84(2):203-6.