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Results: 1-25 | 26-50 | 51-73
Results: 1-25/73
NOVEL MISSENSE MUTATION (M72V) OF ALPHA-GALACTOSIDASE GENE AND ITS EXPRESSION PRODUCT IN AN ATYPICAL FABRY HEMIZYGOTE
Authors: OKUMIYA T KAWAMURA O ITOH K KASE R ISHII S KAMEI S SAKURABA H
Citation: T. Okumiya et al., NOVEL MISSENSE MUTATION (M72V) OF ALPHA-GALACTOSIDASE GENE AND ITS EXPRESSION PRODUCT IN AN ATYPICAL FABRY HEMIZYGOTE, Human mutation, 1998, pp. 213-216
ANGIOKERATOMA CORPORIS DIFFUSUM ASSOCIATED WITH GALACTOSIALIDOSIS
Authors: KAWACHI Y MATSUURA K SAKURABA H OTSUKA F
Citation: Y. Kawachi et al., ANGIOKERATOMA CORPORIS DIFFUSUM ASSOCIATED WITH GALACTOSIALIDOSIS, Dermatology, 197(1), 1998, pp. 52-54
IMMUNOHISTOCHEMICAL CHARACTERIZATION OF TRANSGENIC MICE HIGHLY EXPRESSING HUMAN LYSOSOMAL ALPHA-GALACTOSIDASE
Authors: KASE R SHIMMOTO M ITOH K UTSUMI K KOTANI M TAYA C YONEKAWA H SAKURABA H
Citation: R. Kase et al., IMMUNOHISTOCHEMICAL CHARACTERIZATION OF TRANSGENIC MICE HIGHLY EXPRESSING HUMAN LYSOSOMAL ALPHA-GALACTOSIDASE, Biochimica et biophysica acta. Molecular basis of disease, 1406(3), 1998, pp. 260-266
THE ANALYSIS OF THE STACKED SURROUNDING GATE TRANSISTOR (S-SGT) DRAM FOR THE HIGH-SPEED AND LOW-VOLTAGE OPERATION
Authors: ENDOH T SHINMEI K SAKURABA H MASUOKA F
Citation: T. Endoh et al., THE ANALYSIS OF THE STACKED SURROUNDING GATE TRANSISTOR (S-SGT) DRAM FOR THE HIGH-SPEED AND LOW-VOLTAGE OPERATION, IEICE transactions on electronics, E81C(9), 1998, pp. 1491-1498
INCREASED EXPRESSION OF BETA-HEXOSAMINIDASE ALPHA-CHAIN IN CULTURED SKIN FIBROBLASTS FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEINSYNDROME TYPE-I
Authors: ICHISAKA S OHNO K YUASA I NANBA E SAKURABA H SUZUKI Y
Citation: S. Ichisaka et al., INCREASED EXPRESSION OF BETA-HEXOSAMINIDASE ALPHA-CHAIN IN CULTURED SKIN FIBROBLASTS FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEINSYNDROME TYPE-I, Brain & development, 20(5), 1998, pp. 302-306
ACCUMULATION OF CHOLESTEROL AND G(M2) GANGLIOSIDE IN CELLS CULTURED IN THE PRESENCE OF PROGESTERONE - AN IMPLICATION FOR THE BASIC DEFECT IN NIEMANN-PICK-DISEASE TYPE-C
Authors: SATO M AKABOSHI S KATSUMOTO T TANIGUCHI M HIGAKI K TAI T SAKURABA H OHNO K
Citation: M. Sato et al., ACCUMULATION OF CHOLESTEROL AND G(M2) GANGLIOSIDE IN CELLS CULTURED IN THE PRESENCE OF PROGESTERONE - AN IMPLICATION FOR THE BASIC DEFECT IN NIEMANN-PICK-DISEASE TYPE-C, Brain & development, 20(1), 1998, pp. 50-52
ALPHA-GALACTOSIDASE TRANSGENIC MOUSE - HETEROGENEOUS GENE-EXPRESSION AND POSTTRANSLATIONAL GLYCOSYLATION IN TISSUES
Authors: ISHII S KASE R SAKURABA H TAYA C YONEKAWA H OKUMIYA T MATSUDA Y MANNEN K TAKESHITA M SUZUKI Y
Citation: S. Ishii et al., ALPHA-GALACTOSIDASE TRANSGENIC MOUSE - HETEROGENEOUS GENE-EXPRESSION AND POSTTRANSLATIONAL GLYCOSYLATION IN TISSUES, Glycoconjugate journal, 15(6), 1998, pp. 591-594
ASYMMETRIC EPOXIDATION OF UNFUNCTIONALIZED OLEFINS VIA FORMATION OF CRYSTALLINE CYCLODEXTRIN COMPLEXES
Authors: SAKURABA H TANAKA Y
Citation: H. Sakuraba et Y. Tanaka, ASYMMETRIC EPOXIDATION OF UNFUNCTIONALIZED OLEFINS VIA FORMATION OF CRYSTALLINE CYCLODEXTRIN COMPLEXES, Organic preparations and procedures international, 30(2), 1998, pp. 226-229
ADULT SANDHOFFS-DISEASE - R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE CASE
Authors: HARA A UYAMA E UCHINO M SHIMMOTO M UTSUMI K ITOH K KASE R NAITO M SUGIYAMA E TAKETOMI T SUKEGAWA K SAKURABA H
Citation: A. Hara et al., ADULT SANDHOFFS-DISEASE - R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE CASE, Journal of the neurological sciences, 155(1), 1998, pp. 86-91
LYSENIN, A NOVEL SPHINGOMYELIN-SPECIFIC BINDING-PROTEIN
Authors: YAMAJI A SEKIZAWA Y EMOTO K SAKURABA H INOUE K KOBAYASHI H UMEDA M
Citation: A. Yamaji et al., LYSENIN, A NOVEL SPHINGOMYELIN-SPECIFIC BINDING-PROTEIN, The Journal of biological chemistry, 273(9), 1998, pp. 5300-5306
PROTECTIVE PROTEIN CATHEPSIN-A LOSS IN CULTURED-CELLS DERIVED FROM ANEARLY-INFANTILE FORM OF GALACTOSIALIDOSIS PATIENTS HOMOZYGOUS FOR THEA1184-G TRANSITION (Y395C MUTATION)/
Authors: ITOH K SHIMMOTO M UTSUMI K MIZOGUCHI N MIHARU N OHAMA E SAKURABA H
Citation: K. Itoh et al., PROTECTIVE PROTEIN CATHEPSIN-A LOSS IN CULTURED-CELLS DERIVED FROM ANEARLY-INFANTILE FORM OF GALACTOSIALIDOSIS PATIENTS HOMOZYGOUS FOR THEA1184-G TRANSITION (Y395C MUTATION)/, Biochemical and biophysical research communications, 247(1), 1998, pp. 12-17
ACCELERATED LOSS OF ISLET BETA-CELLS IN SUCROSE-FED GOTO-KAKIZAKI RATS, A GENETIC MODEL OF NON-INSULIN-DEPENDENT DIABETES-MELLITUS
Authors: KOYAMA M WADA R SAKURABA H MIZUKAMI H YAGIHASHI S
Citation: M. Koyama et al., ACCELERATED LOSS OF ISLET BETA-CELLS IN SUCROSE-FED GOTO-KAKIZAKI RATS, A GENETIC MODEL OF NON-INSULIN-DEPENDENT DIABETES-MELLITUS, The American journal of pathology, 153(2), 1998, pp. 537-545
THE URINARY-EXCRETION OF VITRONECTIN RECEPTOR IN PATIENTS WITH FABRY-DISEASE
Authors: UTSUMI K ITOH K KASE R SHIMMOTO M HAYAMA N IINO Y SAKURABA H
Citation: K. Utsumi et al., THE URINARY-EXCRETION OF VITRONECTIN RECEPTOR IN PATIENTS WITH FABRY-DISEASE, Journal of the American Society of Nephrology, 8, 1997, pp. 1831-1831
ASYMMETRIC SOLID-GAS HYDROHALOGENATION OF UNFUNCTIONALIZED OLEFINS VIA FORMATION OF CRYSTALLINE CYCLODEXTRIN COMPLEXES
Authors: SAKURABA H ISHIZAKI H NAKAI T TANAKA Y
Citation: H. Sakuraba et al., ASYMMETRIC SOLID-GAS HYDROHALOGENATION OF UNFUNCTIONALIZED OLEFINS VIA FORMATION OF CRYSTALLINE CYCLODEXTRIN COMPLEXES, Journal of inclusion phenomena and molecular recognition in chemistry, 27(4), 1997, pp. 341-348
HIGH-INCIDENCE OF THROMBOSIS IN FABRYS-DISEASE
Authors: UTSUMI K YAMAMOTO N KASE R TAKATA T OKUMIYA T SAITO H SUZUKI T UYAMA E SAKURABA H
Citation: K. Utsumi et al., HIGH-INCIDENCE OF THROMBOSIS IN FABRYS-DISEASE, Internal medicine, 36(5), 1997, pp. 327-329
DEVELOPMENT OF HEPATOCELLULAR-CARCINOMA IN MICE WITH DISRUPTED PEROXISOMAL FATTY ACYL-COA OXIDASE GENE
Authors: FAN CY SAKURABA H YELDANDI AV RAO MS REDDY JK
Citation: Cy. Fan et al., DEVELOPMENT OF HEPATOCELLULAR-CARCINOMA IN MICE WITH DISRUPTED PEROXISOMAL FATTY ACYL-COA OXIDASE GENE, The FASEB journal, 11(3), 1997, pp. 1318-1318
TETRACYCLINE CONTROLLED PEROXISOMAL FATTY ACYL-COA OXIDASE (ACOX) GENE-EXPRESSION IN MAMMALIAN-CELLS
Authors: SAKURABA H FAN CY YELDANDI AV RAO MS REDDY JK
Citation: H. Sakuraba et al., TETRACYCLINE CONTROLLED PEROXISOMAL FATTY ACYL-COA OXIDASE (ACOX) GENE-EXPRESSION IN MAMMALIAN-CELLS, The FASEB journal, 11(3), 1997, pp. 3211-3211
SCREENING AND DETECTION OF GENE-MUTATIONS IN JAPANESE PATIENTS WITH FABRY DISEASE BY NONRADIOACTIVE SINGLE-STRANDED CONFORMATION POLYMORPHISM ANALYSIS
Authors: TAKATA T OKUMIYA T HAYASHIBE H SHIMMOTO M KASE R ITOH K UTSUMI K KAMEI S SAKURABA H
Citation: T. Takata et al., SCREENING AND DETECTION OF GENE-MUTATIONS IN JAPANESE PATIENTS WITH FABRY DISEASE BY NONRADIOACTIVE SINGLE-STRANDED CONFORMATION POLYMORPHISM ANALYSIS, Brain & development, 19(2), 1997, pp. 111-116
MOLECULAR-FORM AND SUBCELLULAR-DISTRIBUTION OF ACID BETA-GALACTOSIDASE IN FIBROBLASTS FROM PATIENTS WITH G(M1) GANGLIOSIDOSIS, MORQUIO-B-DISEASE AND GALACTOSIALIDOSIS
Authors: TAKIYAMA N ITOH K SHIMMOTO M NISHIMOTO J INUI K SAKURABA H SUZUKI Y
Citation: N. Takiyama et al., MOLECULAR-FORM AND SUBCELLULAR-DISTRIBUTION OF ACID BETA-GALACTOSIDASE IN FIBROBLASTS FROM PATIENTS WITH G(M1) GANGLIOSIDOSIS, MORQUIO-B-DISEASE AND GALACTOSIALIDOSIS, Brain & development, 19(2), 1997, pp. 126-130
R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE ADULT CASE OF SANDHOFFS-DISEASE
Authors: UYAMA E HARA A IKENO K KASE R SHIMMOTO M SAKURABA H UCHINO M
Citation: E. Uyama et al., R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE ADULT CASE OF SANDHOFFS-DISEASE, Annals of neurology, 42(3), 1997, pp. 46-46
NONSENSE MUTATION Q(545) (CAA)-TO-STOP (TAA) IN A CYTOPLASMIC DOMAIN OF GPIB-ALPHA CAUSES A REVERSIBLE RISTOCETIN-INDUCED AGGLUTINATION OF PLATELETS FROM A PATIENT WITH BERNARD-SOULIER-SYNDROME (BSS) TOKYO-II
Authors: YAMAMOTO N SOHMA S AKAMATSU N MATSUNO K HOSOYA R SAKURABA H TANOUE K
Citation: N. Yamamoto et al., NONSENSE MUTATION Q(545) (CAA)-TO-STOP (TAA) IN A CYTOPLASMIC DOMAIN OF GPIB-ALPHA CAUSES A REVERSIBLE RISTOCETIN-INDUCED AGGLUTINATION OF PLATELETS FROM A PATIENT WITH BERNARD-SOULIER-SYNDROME (BSS) TOKYO-II, Thrombosis and haemostasis, 1997, pp. 273-273
SUBCLINICAL FABRYS-DISEASE OCCURRING IN THE CONTEXT OF IGA NEPHROPATHY
Authors: KAWAMURA O SAKURABA H ITOH K SUZUKI Y DOI M KUWABARA H OSHIMA S ABE S WARABI H YOSHIZAWA N
Citation: O. Kawamura et al., SUBCLINICAL FABRYS-DISEASE OCCURRING IN THE CONTEXT OF IGA NEPHROPATHY, Clinical nephrology, 47(2), 1997, pp. 71-75
GENERATION AND CHARACTERIZATION OF TRANSGENIC MICE EXPRESSING A HUMANMUTANT ALPHA-GALACTOSIDASE WITH AN R301Q SUBSTITUTION CAUSING A VARIANT FORM OF FABRY DISEASE
Authors: SHIMMOTO M KASE R ITOH K UTSUMI K ISHII S TAYA C YONEKAWA H SAKURABA H
Citation: M. Shimmoto et al., GENERATION AND CHARACTERIZATION OF TRANSGENIC MICE EXPRESSING A HUMANMUTANT ALPHA-GALACTOSIDASE WITH AN R301Q SUBSTITUTION CAUSING A VARIANT FORM OF FABRY DISEASE, FEBS letters, 417(1), 1997, pp. 89-91
FETAL DIAGNOSIS OF GALACTOSIALIDOSIS (PROTECTIVE PROTEIN CATHEPSIN-A DEFICIENCY)
Authors: ITOH K MIHARU N OHAMA K MIZOGUCHI N SAKURA N SAKURABA H
Citation: K. Itoh et al., FETAL DIAGNOSIS OF GALACTOSIALIDOSIS (PROTECTIVE PROTEIN CATHEPSIN-A DEFICIENCY), Clinica chimica acta, 266(2), 1997, pp. 75-82
IMMUNOCYTOCHEMICAL DETECTION OF ACCUMULATED SUBSTRATES IN CULTURED FIBROBLASTS FROM PATIENTS WITH THE INFANTILE AND ADULT FORMS OF SANDHOFF-DISEASE
Authors: SAKURABA H ITOH K KUROKI Y KASE R SHIMMOTO M UTSUMI K OZAWA H TAI T HARA A UYAMA E
Citation: H. Sakuraba et al., IMMUNOCYTOCHEMICAL DETECTION OF ACCUMULATED SUBSTRATES IN CULTURED FIBROBLASTS FROM PATIENTS WITH THE INFANTILE AND ADULT FORMS OF SANDHOFF-DISEASE, Clinica chimica acta, 265(2), 1997, pp. 263-266
Risultati: 1-25 | 26-50 | 51-73