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Results: 1-24 |
Results: 24
MUTATION AND POLYMORPHIC MARKER ANALYSES OF 65K-GLUTAMATE AND 67K-GLUTAMATE DECARBOXYLASE GENES IN 2 FAMILIES WITH PYRIDOXINE-DEPENDENT EPILEPSY
Authors: KURE S SAKATA Y MIYABAYASHI S TAKAHASHI K SHINKA T MATSUBARA Y HOSHINO H NARISAWA K
Citation: S. Kure et al., MUTATION AND POLYMORPHIC MARKER ANALYSES OF 65K-GLUTAMATE AND 67K-GLUTAMATE DECARBOXYLASE GENES IN 2 FAMILIES WITH PYRIDOXINE-DEPENDENT EPILEPSY, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 128-131
A ONE-BASE DELETION (183DELC) AND A MISSENSE MUTATION (D276H) IN THE T-PROTEIN GENE FROM A JAPANESE FAMILY WITH NONKETOTIC HYPERGLYCINEMIA
Authors: KURE S SHINKA T SAKATA Y OSAMU N TAKAYANAGI M TADA K MATSUBARA Y NARISAWA K
Citation: S. Kure et al., A ONE-BASE DELETION (183DELC) AND A MISSENSE MUTATION (D276H) IN THE T-PROTEIN GENE FROM A JAPANESE FAMILY WITH NONKETOTIC HYPERGLYCINEMIA, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 135-137
2 CPT2 MUTATIONS IN 3 JAPANESE PATIENTS WITH CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - FUNCTIONAL-ANALYSIS AND ASSOCIATION WITH POLYMORPHIC HAPLOTYPES AND 2 CLINICAL PHENOTYPES
Authors: WATAYA K AKANUMA J CAVADINI P AOKI Y KURE S INVERNIZZI F YOSHIDA I KIRA J TARONI F MATSUBARA Y NARISAWA K
Citation: K. Wataya et al., 2 CPT2 MUTATIONS IN 3 JAPANESE PATIENTS WITH CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - FUNCTIONAL-ANALYSIS AND ASSOCIATION WITH POLYMORPHIC HAPLOTYPES AND 2 CLINICAL PHENOTYPES, Human mutation, 11(5), 1998, pp. 377-386
A MISSENSE MUTATION (HIS42ARG) IN THE T-PROTEIN GENE FROM A LARGE ISRAELI-ARAB KINDRED WITH NONKETOTIC HYPERGLYCINEMIA
Authors: KURE S MANDEL H ROLLAND MO SAKATA Y SHINKA T DRUGAN A BONEH A TADA K MATSUBARA Y NARISAWA K
Citation: S. Kure et al., A MISSENSE MUTATION (HIS42ARG) IN THE T-PROTEIN GENE FROM A LARGE ISRAELI-ARAB KINDRED WITH NONKETOTIC HYPERGLYCINEMIA, Human genetics, 102(4), 1998, pp. 430-434
A SUBTYPE OF PYRIDOXINE-DEPENDENT EPILEPSY WITH NORMAL CSF GLUTAMATE CONCENTRATION
Authors: KURE S MAEDA T FUKUSHIMA N OHURA T TAKAHASHI K NISHIKAWA T MATSUBARA Y IZUMI T NARISAWA K
Citation: S. Kure et al., A SUBTYPE OF PYRIDOXINE-DEPENDENT EPILEPSY WITH NORMAL CSF GLUTAMATE CONCENTRATION, Journal of inherited metabolic disease, 21(4), 1998, pp. 431-432
MOLECULAR ANALYSIS OF GLYCOGEN-STORAGE-DISEASE TYPE IB - IDENTIFICATION OF A PREVALENT MUTATION AMONG JAPANESE PATIENTS AND ASSIGNMENT OF APUTATIVE GLUCOSE-6-PHOSPHATE TRANSLOCASE GENE TO CHROMOSOME-11
Authors: KURE S SUZAKI Y MATSUBARA Y SAKAMOTO O SHINTAKU H ISSHIKI G HOSHIDA C IZUMI I SAKURA N NARISAWA K
Citation: S. Kure et al., MOLECULAR ANALYSIS OF GLYCOGEN-STORAGE-DISEASE TYPE IB - IDENTIFICATION OF A PREVALENT MUTATION AMONG JAPANESE PATIENTS AND ASSIGNMENT OF APUTATIVE GLUCOSE-6-PHOSPHATE TRANSLOCASE GENE TO CHROMOSOME-11, Biochemical and biophysical research communications (Print), 248(2), 1998, pp. 426-431
C K-EDGE XAS ANALYSIS OF COKE MATERIALS DEPOSITED ON CATALYSTS
Authors: SHIMADA H IMAMURA M MATSUBAYASHI N SATO T HAYAKAWA T TAKEHIRA K KURE S KINOSHITA A NISHIJIMA A
Citation: H. Shimada et al., C K-EDGE XAS ANALYSIS OF COKE MATERIALS DEPOSITED ON CATALYSTS, Journal de physique. IV, 7(C2), 1997, pp. 919-920
EXAFS ESTIMATION OF THE CHANGES OF THE WS2 SLAB SIZE DURING THE USE IN A HDS RUN AND REGENERATION
Authors: KURE S YOKOYAMA Y MAKISHIMA H SHIMADA H MATSUBAYASHI N NISHIJIMA A NOMURA M
Citation: S. Kure et al., EXAFS ESTIMATION OF THE CHANGES OF THE WS2 SLAB SIZE DURING THE USE IN A HDS RUN AND REGENERATION, Journal de physique. IV, 7(C2), 1997, pp. 929-930
DINUCLEOTIDE REPEAT POLYMORPHISM IN 65K-GLUTAMATE DECARBOXYLASE GENE
Authors: KURE S AOKI Y SHINKA T SAKATA Y MATSUBARA Y NARISAWA K
Citation: S. Kure et al., DINUCLEOTIDE REPEAT POLYMORPHISM IN 65K-GLUTAMATE DECARBOXYLASE GENE, JPN J HUM G, 42(3), 1997, pp. 429-431
NONKETOTIC HYPERGLYCINEMIA - BIOCHEMICAL, MOLECULAR, AND NEUROLOGICALASPECTS
Authors: KURE S TADA K NARISAWA K
Citation: S. Kure et al., NONKETOTIC HYPERGLYCINEMIA - BIOCHEMICAL, MOLECULAR, AND NEUROLOGICALASPECTS, JPN J HUM G, 42(1), 1997, pp. 13-22
MOLECULAR ANALYSIS OF DIHYDROPTERIDINE REDUCTASE DEFICIENCY - IDENTIFICATION OF 2 NOVEL MUTATIONS IN JAPANESE PATIENTS
Authors: IKEDA H MATSUBARA Y MIKAMI H KURE S OWADA M GOUGH T SMOOKER PM DOBBS M DAHL HHM COTTON RGH NARISAWA K
Citation: H. Ikeda et al., MOLECULAR ANALYSIS OF DIHYDROPTERIDINE REDUCTASE DEFICIENCY - IDENTIFICATION OF 2 NOVEL MUTATIONS IN JAPANESE PATIENTS, Human genetics, 100(5-6), 1997, pp. 637-642
SKIN-TEST FOR DETECTION OF CELLULAR AUTOIMMUNITY TO GAD65 IN IDDM - ASTUDY IN NOD MOUSE
Authors: MUTO Y KURE S SAKATA Y MASUDA T SHINKA T MATSUBARA Y SATOH J NARISAWA K
Citation: Y. Muto et al., SKIN-TEST FOR DETECTION OF CELLULAR AUTOIMMUNITY TO GAD65 IN IDDM - ASTUDY IN NOD MOUSE, Diabetologia, 40, 1997, pp. 346-346
DEPLETION OF CEREBRAL D-SERINE IN NONKETOTIC HYPERGLYCINEMIA - POSSIBLE INVOLVEMENT OF GLYCINE CLEAVAGE SYSTEM IN CONTROL OF ENDOGENOUS D-SERINE
Authors: IWAMA H TAKAHASHI K KURE S HAYASHI F NARISAWA K TADA K MIZOGUCHI M TAKASHIMA S TOMITA U NISHIKAWA T
Citation: H. Iwama et al., DEPLETION OF CEREBRAL D-SERINE IN NONKETOTIC HYPERGLYCINEMIA - POSSIBLE INVOLVEMENT OF GLYCINE CLEAVAGE SYSTEM IN CONTROL OF ENDOGENOUS D-SERINE, Biochemical and biophysical research communications, 231(3), 1997, pp. 793-796
CHARACTERIZATION OF NI-W AL2O3-SIO2 AROMATICS SATURATION CATALYSTS USED IN A ONE-YEAR COMMERCIAL HDS RUN/
Authors: MAKISHIMA H TANAKA Y KATO Y KURE S SHIMADA H MATSUBAYASHI N NISHIJIMA A NOMURA M
Citation: H. Makishima et al., CHARACTERIZATION OF NI-W AL2O3-SIO2 AROMATICS SATURATION CATALYSTS USED IN A ONE-YEAR COMMERCIAL HDS RUN/, Catalysis today, 29(1-4), 1996, pp. 267-271
ASSOCIATION OF A MUTATION IN THIAZIDE-SENSITIVE NA-CL COTRANSPORTER WITH FAMILIAL GITELMANS-SYNDROME
Authors: TAKEUCHI K KURE S KATO T TANIYAMA Y TAKAHASHI N IKEDA Y ABE T NARISAWA K MURAMATSU Y ABE K
Citation: K. Takeuchi et al., ASSOCIATION OF A MUTATION IN THIAZIDE-SENSITIVE NA-CL COTRANSPORTER WITH FAMILIAL GITELMANS-SYNDROME, The Journal of clinical endocrinology and metabolism, 81(12), 1996, pp. 4496-4499
THE GLYCINE CLEAVAGE SYSTEM IN ASTROCYTES - ITS PHYSIOLOGICAL-ROLE REVEALED BY STUDY OF HYPERGLYCINEMIA
Authors: KURE S NARISAWA K TADA K
Citation: S. Kure et al., THE GLYCINE CLEAVAGE SYSTEM IN ASTROCYTES - ITS PHYSIOLOGICAL-ROLE REVEALED BY STUDY OF HYPERGLYCINEMIA, Journal of neurochemistry, 65, 1995, pp. 125-125
APOPTOTIC CELL-DEATH OF A TEMPERATURE-SENSITIVE CENTRAL NEURONAL CELL-LINE
Authors: HISANAGA K KURE S BREDESEN DE IKEDA Y KOHSAKA S SHARP FR
Citation: K. Hisanaga et al., APOPTOTIC CELL-DEATH OF A TEMPERATURE-SENSITIVE CENTRAL NEURONAL CELL-LINE, Brain research, 684(1), 1995, pp. 79-86
ECTOPIC TRANSCRIPTION - AN APPLICATION TO THE ANALYSIS OF SPLICING ERRORS IN PHENYLALANINE-HYDROXYLASE MESSENGER-RNA
Authors: TAKAHASHI K MASAMUNE A KURE S MATSUBARA Y NARISAWA K
Citation: K. Takahashi et al., ECTOPIC TRANSCRIPTION - AN APPLICATION TO THE ANALYSIS OF SPLICING ERRORS IN PHENYLALANINE-HYDROXYLASE MESSENGER-RNA, Acta paediatrica, 83, 1994, pp. 45-46
SYNTHESIS OF ORGANIC-INORGANIC POLYMER HYBRIDS CONTAINING TRANSITION-METAL SALTS
Authors: CHUJO Y KURE S MATSUKI H SAEGUSA T
Citation: Y. Chujo et al., SYNTHESIS OF ORGANIC-INORGANIC POLYMER HYBRIDS CONTAINING TRANSITION-METAL SALTS, Proceedings of the Japan Academy. Series B Physical and biological sciences, 70(9), 1994, pp. 138-142
CONTROL OF PORE-SIZE OF POROUS SILICA BY MEANS OF PYROLYSIS OF AN ORGANIC-INORGANIC POLYMER HYBRID
Authors: CHUJO Y MATSUKI H KURE S SAEGUSA T YAZAWA T
Citation: Y. Chujo et al., CONTROL OF PORE-SIZE OF POROUS SILICA BY MEANS OF PYROLYSIS OF AN ORGANIC-INORGANIC POLYMER HYBRID, Journal of the Chemical Society, Chemical Communications, (5), 1994, pp. 635-636
CONVENIENT SYNTHESIS OF 4-METHYLENE-2-OXAZOLIDINONES AND 4-METHYLENETETRAHYDRO-1,3-OXAZIN-2-ONES VIA TRANSITION-METAL-CATALYZED INTRAMOLECULAR ADDITION OF NITROGEN ATOM TO ACETYLENIC TRIPLE BOND
Authors: TAMARU Y KIMURA M TANAKA S KURE S YOSHIDA Z
Citation: Y. Tamaru et al., CONVENIENT SYNTHESIS OF 4-METHYLENE-2-OXAZOLIDINONES AND 4-METHYLENETETRAHYDRO-1,3-OXAZIN-2-ONES VIA TRANSITION-METAL-CATALYZED INTRAMOLECULAR ADDITION OF NITROGEN ATOM TO ACETYLENIC TRIPLE BOND, Bulletin of the Chemical Society of Japan, 67(10), 1994, pp. 2838-2849
NONKETOTIC HYPERGLYCINEMIA - MOLECULAR LESION, DIAGNOSIS AND PATHOPHYSIOLOGY
Authors: TADA K KURE S
Citation: K. Tada et S. Kure, NONKETOTIC HYPERGLYCINEMIA - MOLECULAR LESION, DIAGNOSIS AND PATHOPHYSIOLOGY, Journal of inherited metabolic disease, 16(4), 1993, pp. 691-703
SYNTHESIS OF TRIETHOXYSILYL-TERMINATED POLYOXAZOLINES AND THEIR COHYDROLYSIS POLYMERIZATION WITH TETRAETHOXYSILANE
Authors: CHUJO Y IHARA E KURE S SAEGUSA T
Citation: Y. Chujo et al., SYNTHESIS OF TRIETHOXYSILYL-TERMINATED POLYOXAZOLINES AND THEIR COHYDROLYSIS POLYMERIZATION WITH TETRAETHOXYSILANE, Macromolecules, 26(21), 1993, pp. 5681-5686
ATYPICAL NONKETOTIC HYPERGLYCINEMIA CONFIRMED BY ASSAY OF THE GLYCINECLEAVAGE SYSTEM IN LYMPHOBLASTS
Authors: CHRISTODOULOU J KURE S HAYASAKA K CLARKE JTR
Citation: J. Christodoulou et al., ATYPICAL NONKETOTIC HYPERGLYCINEMIA CONFIRMED BY ASSAY OF THE GLYCINECLEAVAGE SYSTEM IN LYMPHOBLASTS, The Journal of pediatrics, 123(1), 1993, pp. 100-102
Risultati: 1-24 |