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Results: 1-12 |
Results: 12
INCREASED LEVELS OF GM(2) GANGLIOSIDE IN FIBROBLASTS FROM A PATIENT WITH JUVENILE NIEMANN-PICK-DISEASE TYPE-C
Authors: WATANABE Y AKABOSHI S ISHIDA G TAKESHIMA T YANO T TANIGUCHI M OHNO K NAKASHIMA K
Citation: Y. Watanabe et al., INCREASED LEVELS OF GM(2) GANGLIOSIDE IN FIBROBLASTS FROM A PATIENT WITH JUVENILE NIEMANN-PICK-DISEASE TYPE-C, Brain & development, 20(2), 1998, pp. 95-97
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
TRANSIENT EXTREME SPINDLES IN A CASE OF SUBACUTE MYCOPLASMA-PNEUMONIAE ENCEPHALITIS
Authors: AKABOSHI S KOEDA T HOUDOU S
Citation: S. Akaboshi et al., TRANSIENT EXTREME SPINDLES IN A CASE OF SUBACUTE MYCOPLASMA-PNEUMONIAE ENCEPHALITIS, Acta Paediatrica Japonica Overseas Edition, 40(5), 1998, pp. 479-482
ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY - NOVEL POINT MUTATIONS WITHIN AND ADJACENT TO THE PHOSPHATIDYLINOSITOL 3-KINASE-LIKE DOMAIN
Authors: TOYOSHIMA M HARA T ZHANG HD YAMAMOTO T AKABOSHI S NANBA E OHNO K HORI N SATO K TAKESHITA K
Citation: M. Toyoshima et al., ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY - NOVEL POINT MUTATIONS WITHIN AND ADJACENT TO THE PHOSPHATIDYLINOSITOL 3-KINASE-LIKE DOMAIN, American journal of medical genetics, 75(2), 1998, pp. 141-144
INCREASED CEREBRAL CHOLINE-COMPOUNDS IN DUCHENNE-MUSCULAR-DYSTROPHY
Authors: KATO T NISHINA M MATSUSHITA K HORI E AKABOSHI S TAKASHIMA S
Citation: T. Kato et al., INCREASED CEREBRAL CHOLINE-COMPOUNDS IN DUCHENNE-MUSCULAR-DYSTROPHY, NeuroReport, 8(6), 1997, pp. 1435-1437
PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY - SERIAL NEUROPHYSIOLOGICAL EXAMINATIONS OF A CASE
Authors: AKABOSHI S TOMITA Y SUZUKI Y UNE M SOHMA O TAKASHIMA S TAKESHITA K
Citation: S. Akaboshi et al., PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY - SERIAL NEUROPHYSIOLOGICAL EXAMINATIONS OF A CASE, Brain & development, 19(4), 1997, pp. 295-299
A C57BL KSJ MOUSE MODEL OF NIEMANN-PICK DISEASE (SPM) BELONGS TO THE SAME COMPLEMENTATION GROUP AS THE MAJOR CHILDHOOD TYPE OF NIEMANN-PICKDISEASE TYPE-C/
Authors: AKABOSHI S YANO T MIYAWAKI S OHNO K TAKESHITA K
Citation: S. Akaboshi et al., A C57BL KSJ MOUSE MODEL OF NIEMANN-PICK DISEASE (SPM) BELONGS TO THE SAME COMPLEMENTATION GROUP AS THE MAJOR CHILDHOOD TYPE OF NIEMANN-PICKDISEASE TYPE-C/, Human genetics, 99(3), 1997, pp. 350-353
BILE-ACID PROFILES IN A PEROXISOMAL D-3-HYDROXYACYL-COA DEHYDRATASE D-3-HYDROXYACYL-COA DEHYDROGENASE BIFUNCTIONAL PROTEIN-DEFICIENCY
Authors: UNE M KONISHI M SUZUKI Y AKABOSHI S YOSHII M KURAMOTO T FUJIMURA K
Citation: M. Une et al., BILE-ACID PROFILES IN A PEROXISOMAL D-3-HYDROXYACYL-COA DEHYDRATASE D-3-HYDROXYACYL-COA DEHYDROGENASE BIFUNCTIONAL PROTEIN-DEFICIENCY, Journal of Biochemistry, 122(3), 1997, pp. 655-658
EPILEPSY IN PEROXISOMAL DISEASES
Authors: TAKAHASHI Y SUZUKI Y KUMAZAKI K TANABE Y AKABOSHI S MIURA K SHIMOZAWA N KONDO N NISHIGUCHI T TERADA K ORII T
Citation: Y. Takahashi et al., EPILEPSY IN PEROXISOMAL DISEASES, Epilepsia, 38(2), 1997, pp. 182-188
ACCUMULATION OF G(M2) GANGLIOSIDE IN NIEMANN-PICK DISEASE TYPE-C FIBROBLASTS
Authors: YANO T TANIGUCHI M AKABOSHI S VANIER MT TAI T SAKURABA H OHNO K
Citation: T. Yano et al., ACCUMULATION OF G(M2) GANGLIOSIDE IN NIEMANN-PICK DISEASE TYPE-C FIBROBLASTS, Proceedings of the Japan Academy. Series B Physical and biological sciences, 72(10), 1996, pp. 214-219
NEURORADIOLOGICAL FINDINGS IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEINSYNDROME
Authors: AKABOSHI S OHNO K TAKESHITA K
Citation: S. Akaboshi et al., NEURORADIOLOGICAL FINDINGS IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEINSYNDROME, Neuroradiology, 37(6), 1995, pp. 491-495
NOVEL SUBTYPE OF PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY AND BIFUNCTIONAL ENZYME DEFICIENCY WITH DETECTABLE ENZYME PROTEIN - IDENTIFICATIONBY MEANS OF COMPLEMENTATION ANALYSIS
Authors: SUZUKI Y SHIMOZAWA N YAJIMA S TOMATSU S KONDO N NAKADA Y AKABOSHI S IAI M TANABE Y HASHIMOTO T WANDERS RJA SCHUTGENS RBH MOSER HW ORII T
Citation: Y. Suzuki et al., NOVEL SUBTYPE OF PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY AND BIFUNCTIONAL ENZYME DEFICIENCY WITH DETECTABLE ENZYME PROTEIN - IDENTIFICATIONBY MEANS OF COMPLEMENTATION ANALYSIS, American journal of human genetics, 54(1), 1994, pp. 36-43
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