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CHARACTERIZATION OF N93S, I312T, AND A333P MISSENSE MUTATIONS IN 2 JAPANESE FAMILIES WITH MITOCHONDRIAL ACETOACETYL-COA THIOLASE DEFICIENCY
Authors: FUKAO T NAKAMURA H SONG XQ NAKAMURA K ORII KE KOHNO Y KANO M YAMAGUCHI S HASHIMOTO T ORII T KONDO N
Citation: T. Fukao et al., CHARACTERIZATION OF N93S, I312T, AND A333P MISSENSE MUTATIONS IN 2 JAPANESE FAMILIES WITH MITOCHONDRIAL ACETOACETYL-COA THIOLASE DEFICIENCY, Human mutation, 12(4), 1998, pp. 245-254
MOLECULAR HETEROGENEITY IN MUCOPOLYSACCHARIDOSIS IVA IN AUSTRALIA ANDNORTHERN-IRELAND - 9 NOVEL MUTATIONS INCLUDING T312S, A COMMON ALLELETHAT CONFERS A MILD PHENOTYPE
Authors: YAMADA N FUKUDA S TOMATSU S MULLER V HOPWOOD JJ NELSON J KATO Z YAMAGISHI A SUKEGAWA K KONDO N ORII T
Citation: N. Yamada et al., MOLECULAR HETEROGENEITY IN MUCOPOLYSACCHARIDOSIS IVA IN AUSTRALIA ANDNORTHERN-IRELAND - 9 NOVEL MUTATIONS INCLUDING T312S, A COMMON ALLELETHAT CONFERS A MILD PHENOTYPE, Human mutation, 11(3), 1998, pp. 202-208
15 POLYMORPHISMS IN THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE (GALNS) GENE - DIAGNOSTIC IMPLICATIONS IN MORQUIO-DISEASE
Authors: TOMATSU SJ FUKUDA S COOPER A WRAITH JE YAMAGISHI A KATO Z YAMADA N ISOGAI K SUKEGAWA K SUZUKI Y SHIMOZAWA N KONDO N ORII T
Citation: Sj. Tomatsu et al., 15 POLYMORPHISMS IN THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE (GALNS) GENE - DIAGNOSTIC IMPLICATIONS IN MORQUIO-DISEASE, Human mutation, 1998, pp. 42-46
A NOVEL MUTATION, R125X IN PEROXISOME ASSEMBLY FACTOR-I RESPONSIBLE FOR ZELLWEGER-SYNDROME
Authors: SHIMOZAWA N SUZUKI Y TOMATSU S NAKAMURA H KONO T TAKADA H TSUKAMOTO T FUJIKI Y ORII T KONDO N
Citation: N. Shimozawa et al., A NOVEL MUTATION, R125X IN PEROXISOME ASSEMBLY FACTOR-I RESPONSIBLE FOR ZELLWEGER-SYNDROME, Human mutation, 1998, pp. 134-136
TREATMENT OF MPS-VII (SLY-DISEASE) BY ALLOGENEIC BMT IN A FEMALE WITHHOMOZYGOUS A619V MUTATION
Authors: YAMADA Y KATO K SUKEGAWA K TOMATSU S FUKUDA S EMURA S KOJIMA S MATSUYAMA T SLY WS KONDO N ORII T
Citation: Y. Yamada et al., TREATMENT OF MPS-VII (SLY-DISEASE) BY ALLOGENEIC BMT IN A FEMALE WITHHOMOZYGOUS A619V MUTATION, Bone marrow transplantation, 21(6), 1998, pp. 629-634
AMINO-ACID AND NUCLEOTIDE-SEQUENCES OF HUMAN PEROXISOMAL ENOYL-COA HYDRATASE - 3-HYDROXYACYL-COA DEHYDROGENASE CDNA
Authors: FUKUDA S SUZUKI Y SHIMOZAWA N ZHANG Z ORII T AOYAMA T HASHIMOTO T KONDO N
Citation: S. Fukuda et al., AMINO-ACID AND NUCLEOTIDE-SEQUENCES OF HUMAN PEROXISOMAL ENOYL-COA HYDRATASE - 3-HYDROXYACYL-COA DEHYDROGENASE CDNA, Journal of inherited metabolic disease, 21(1), 1998, pp. 23-28
MUTATION ANALYSIS IN THE IDURONATE-2-SULFATASE GENE IN 43 JAPANESE PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II (HUNTER-DISEASE)
Authors: ISOGAI K SUKEGAWA K TOMATSU S FUKAO T SONG XQ YAMADA Y FUKUDA S ORII T KONDO N
Citation: K. Isogai et al., MUTATION ANALYSIS IN THE IDURONATE-2-SULFATASE GENE IN 43 JAPANESE PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II (HUNTER-DISEASE), Journal of inherited metabolic disease, 21(1), 1998, pp. 60-70
DOPPLER ULTRASONOGRAPHY IN LIVING-RELATED LIVER-TRANSPLANTATION
Authors: ASAKURA T OHKOHCHI N KATOH H ORII T KIKUCHI H SEKIGUCHI S KAWAGISHI N TAKAYAMA J OIKAWA K SATOMI S
Citation: T. Asakura et al., DOPPLER ULTRASONOGRAPHY IN LIVING-RELATED LIVER-TRANSPLANTATION, Transplantation proceedings, 30(7), 1998, pp. 3190-3194
GRAFT WEIGHT RECIPIENT BODY-WEIGHT RATIO (G R RATIO) IN LIVING-RELATED LIVER-TRANSPLANTATION FOR PEDIATRIC-PATIENTS - ABDOMINAL-WALL CLOSURE IN CASES WITH A LARGE G/R RATIO/
Authors: OIKAWA K OHKOHCHI N KATO H ORII T SHIMAOKA S KAWAGISHI N ASAKURA T TAKAYAMA J SATOMI S
Citation: K. Oikawa et al., GRAFT WEIGHT RECIPIENT BODY-WEIGHT RATIO (G R RATIO) IN LIVING-RELATED LIVER-TRANSPLANTATION FOR PEDIATRIC-PATIENTS - ABDOMINAL-WALL CLOSURE IN CASES WITH A LARGE G/R RATIO/, Transplantation proceedings, 30(7), 1998, pp. 3209-3210
A CASE-REPORT - SPLIT-THICKNESS SKIN-GRAFTING ON A TRANSPLANTED LIVER
Authors: OGAWA N OHKOHCHI N KATO H ORII T SIMAOKA S KIKUCHI H SATOMI S
Citation: N. Ogawa et al., A CASE-REPORT - SPLIT-THICKNESS SKIN-GRAFTING ON A TRANSPLANTED LIVER, Transplantation proceedings, 30(7), 1998, pp. 3211-3213
COMPLICATIONS AND TREATMENTS OF DONORS AND RECIPIENTS IN LIVING-RELATED LIVER-TRANSPLANTATION
Authors: OHKOHCHI N KATOH H ORII T FUJIMORI K SHIMAOKA S SATOMI S
Citation: N. Ohkohchi et al., COMPLICATIONS AND TREATMENTS OF DONORS AND RECIPIENTS IN LIVING-RELATED LIVER-TRANSPLANTATION, Transplantation proceedings, 30(7), 1998, pp. 3218-3220
LIVING-RELATED LIVER-TRANSPLANTATION IN PATIENTS WITH ABO INCOMPATIBILITY
Authors: TAKAYAMA J OHKOHCHI N OIKAWA K ASAKURA T KAWAGISHI N KIKUCHI H KOYAMADA N ORII T SAKURADA M DOI H FUJIMORI K KATOH H SATAKE M SATOMI S
Citation: J. Takayama et al., LIVING-RELATED LIVER-TRANSPLANTATION IN PATIENTS WITH ABO INCOMPATIBILITY, Transplantation proceedings, 30(7), 1998, pp. 3504-3506
PRACTICAL ASSAY-METHOD OF CYTOSOLIC ACETOACETYL-COA THIOLASE BY RAPIDRELEASE OF CYTOSOLIC ENZYMES FROM CULTURED LYMPHOCYTES USING DIGITONIN
Authors: WATANABE H YAMAGUCHI S KIMURA M WAKAZONO A SONG XQ FUKAO T ORII T HASHIMOTO T
Citation: H. Watanabe et al., PRACTICAL ASSAY-METHOD OF CYTOSOLIC ACETOACETYL-COA THIOLASE BY RAPIDRELEASE OF CYTOSOLIC ENZYMES FROM CULTURED LYMPHOCYTES USING DIGITONIN, Tohoku Journal of Experimental Medicine, 184(1), 1998, pp. 29-38
ELECTROLUMINESCENCE OF SILICON NANOCRYSTALLITES PREPARED BY PULSED-LASER ABLATION IN REDUCED PRESSURE INERT-GAS
Authors: YOSHIDA T YAMADA Y ORII T
Citation: T. Yoshida et al., ELECTROLUMINESCENCE OF SILICON NANOCRYSTALLITES PREPARED BY PULSED-LASER ABLATION IN REDUCED PRESSURE INERT-GAS, Journal of applied physics, 83(10), 1998, pp. 5427-5432
BROTHER SISTER SIBLINGS AFFECTED WITH HUNTER-DISEASE - EVIDENCE FOR SKEWED X-CHROMOSOME INACTIVATION/
Authors: SUKEGAWA K MATSUZAKI T FUKUDA S MASUNO M FUKAO T KOKURYU M IWATA S TOMATSU S ORII T KONDO N
Citation: K. Sukegawa et al., BROTHER SISTER SIBLINGS AFFECTED WITH HUNTER-DISEASE - EVIDENCE FOR SKEWED X-CHROMOSOME INACTIVATION/, Clinical genetics, 53(2), 1998, pp. 96-101
PEROXISOME BIOGENESIS DISORDERS - IDENTIFICATION OF A NEW COMPLEMENTATION GROUP DISTINCT FROM PEROXISOME-DEFICIENT CHO MUTANTS AND NOT COMPLEMENTED BY HUMAN PEX-13
Authors: SHIMOZAWA N SUZUKI Y ZHANG ZY IMAMURA A TSUKAMOTO T OSUMI T TATEISHI K OKUMOTO K FUJIKI Y ORII T BARTH PG WANDERS RJA KONDO N
Citation: N. Shimozawa et al., PEROXISOME BIOGENESIS DISORDERS - IDENTIFICATION OF A NEW COMPLEMENTATION GROUP DISTINCT FROM PEROXISOME-DEFICIENT CHO MUTANTS AND NOT COMPLEMENTED BY HUMAN PEX-13, Biochemical and biophysical research communications, 243(2), 1998, pp. 368-371
TEMPERATURE-SENSITIVE PHENOTYPES OF PEROXISOME-ASSEMBLY PROCESSES REPRESENT THE MILDER FORMS OF HUMAN PEROXISOME-BIOGENESIS DISORDERS
Authors: IMAMURA A TSUKAMOTO T SHIMOZAWA N SUZUKI Y ZHANG ZH IMANAKA T FUJIKI Y ORII T KONDO N OSUMI T
Citation: A. Imamura et al., TEMPERATURE-SENSITIVE PHENOTYPES OF PEROXISOME-ASSEMBLY PROCESSES REPRESENT THE MILDER FORMS OF HUMAN PEROXISOME-BIOGENESIS DISORDERS, American journal of human genetics, 62(6), 1998, pp. 1539-1543
PULMONARY HEMOSIDEROSIS WITH HYPERSENSITIVITY TO BUCKWHEAT
Authors: AGATA H KONDO N FUKUTOMI O TAKEMURA M TASHITA H KOBAYASHI Y SHINODA S NISHIDA T SHINBARA M ORII T
Citation: H. Agata et al., PULMONARY HEMOSIDEROSIS WITH HYPERSENSITIVITY TO BUCKWHEAT, Annals of allergy, asthma, & immunology, 78(2), 1997, pp. 233-237
IDENTIFICATION OF 3 NOVEL FRAMESHIFT MUTATIONS (83DELAT, 754INSCT, AND 435-TO-A) OF MITOCHONDRIAL ACETOACETYL-COENZYME-A THIOLASE GENE IN 2SWISS PATIENTS WITH CRM-NEGATIVE BETA-KETOTHIOLASE DEFICIENCY(1G)
Authors: FUKAO T SONG XQ YAMAGUCHI S KONDO N ORII T MATTHIEU JM BACHMANN C HASHIMOTO T
Citation: T. Fukao et al., IDENTIFICATION OF 3 NOVEL FRAMESHIFT MUTATIONS (83DELAT, 754INSCT, AND 435-TO-A) OF MITOCHONDRIAL ACETOACETYL-COENZYME-A THIOLASE GENE IN 2SWISS PATIENTS WITH CRM-NEGATIVE BETA-KETOTHIOLASE DEFICIENCY(1G), Human mutation, 9(3), 1997, pp. 277-279
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
Authors: SUKEGAWA K SONG XQ MASUNO M FUKAO T SHIMOZAWA N FUKUDA S ISOGAI K NISHIO H MATSUO M TOMATSU S KONDO N ORII T
Citation: K. Sukegawa et al., 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, 10(5), 1997, pp. 361-367
14 NOVEL MUCOPOLYSACCHARIDOSIS IVA PRODUCING MUTATIONS IN GALNS GENE
Authors: TOMATSU S FUKUDA S COOPER A WRAITH JE FERREIRA P DINATALE P TORTORA P FUJIMOTO A KATO Z YAMADA N ISOGAI K YAMAGISHI A SUKEGAWA K SUZUKI Y SHIMOZAWA N KONDO N SLY WS ORII T
Citation: S. Tomatsu et al., 14 NOVEL MUCOPOLYSACCHARIDOSIS IVA PRODUCING MUTATIONS IN GALNS GENE, Human mutation, 10(5), 1997, pp. 368-375
IDENTIFICATION OF 31 NOVEL MUTATIONS IN THE N-ACETYLGALACTOSAMINE-6-SULFATASE GENE REVEALS EXCESSIVE ALLELIC HETEROGENEITY AMONG PATIENTS WITH MORQUIO-A-SYNDROME
Authors: BUNGE S KLEIJER WJ TYLKISZYMANSKA A STEGLICH C BECK M TOMATSU S FUKUDA S POORTHUIS BJHM CZARTORYSKA B ORII T GAL A
Citation: S. Bunge et al., IDENTIFICATION OF 31 NOVEL MUTATIONS IN THE N-ACETYLGALACTOSAMINE-6-SULFATASE GENE REVEALS EXCESSIVE ALLELIC HETEROGENEITY AMONG PATIENTS WITH MORQUIO-A-SYNDROME, Human mutation, 10(3), 1997, pp. 223-232
GENOMIC AND MUTATIONAL ANALYSIS OF THE MITOCHONDRIAL TRIFUNCTIONAL PROTEIN BETA-SUBUNIT (HADHB) GENE IN PATIENTS WITH TRIFUNCTIONAL PROTEIN-DEFICIENCY
Authors: ORII KE AOYAMA T WAKUI K FUKUSHIMA Y MIYAJIMA H YAMAGUCHI S ORII T KONDO N HASHIMOTO T
Citation: Ke. Orii et al., GENOMIC AND MUTATIONAL ANALYSIS OF THE MITOCHONDRIAL TRIFUNCTIONAL PROTEIN BETA-SUBUNIT (HADHB) GENE IN PATIENTS WITH TRIFUNCTIONAL PROTEIN-DEFICIENCY, Human molecular genetics, 6(8), 1997, pp. 1215-1224
STUDY OF THE PHOTODISSOCIATION OF A CDSE NANOCRYSTAL BEAM BY MEANS OFPHOTOLUMINESCENCE AND RAMAN-SCATTERING
Authors: ORII T KAITO S MATSUISHI K ONARI S ARAI T
Citation: T. Orii et al., STUDY OF THE PHOTODISSOCIATION OF A CDSE NANOCRYSTAL BEAM BY MEANS OFPHOTOLUMINESCENCE AND RAMAN-SCATTERING, Journal of physics. Condensed matter, 9(21), 1997, pp. 4483-4494
MOLECULAR CHARACTERIZATION OF THE MOUSE VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE GENE
Authors: ORII KO AOYAMA T SAITOOHARA F IKEUCHI T ORII T KONDO N HASHIMOTO T
Citation: Ko. Orii et al., MOLECULAR CHARACTERIZATION OF THE MOUSE VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE GENE, Mammalian genome, 8(7), 1997, pp. 516-518
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