المؤلفون: Tabata, Ayako, Sheng, Jian-Sheng, Ushikai, Miharu, Song, Yuan-Zong^{Aff1, Aff2}, Gao, Hong-Zhi^{Aff1, Aff3}, Lu, Yao-Bang^{Aff1, Aff4}, Okumura, Fumihiko, Iijima, Mikio, Mutoh, Kozo, Kishida, Shosei, Saheki, Takeyori^{Aff1, Aff6}, Kobayashi, Keiko^Aff1

المصدر: Journal of Human Genetics. 53(6):534-545

المؤلفون: Lu, Yao Bang, Kobayashi, Keiko^Aff1, Ushikai, Miharu, Tabata, Ayako, Iijima, Mikio, Li, Meng Xian, Lei, Lei, Kawabe, Kotaro, Taura, Satoru, Yang, Yanling, Liu, Tze-Tze, Chiang, Szu-Hui, Hsiao, Kwang-Jen, Lau, Yu-Lung, Tsui, Lap-Chee, Lee, Dong Hwan, Saheki, Takeyori

المصدر: Journal of Human Genetics. 50(7):338-346

المؤلفون: Lu YB; Department of Biotechnology, Pharmacy College, Hunan University of Traditional Chinese Medicine, Changsha, Hunan, 410007, P. R. China. luyb414@sina.com, Peng F, Li MX, Kobayashi K, Saheki T

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2006 Dec; Vol. 23 (6), pp. 655-8.

نوع المنشور: English Abstract; Journal Article; Review

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Calcium-Binding Proteins/*genetics , Cholestasis, Intrahepatic/*genetics , Citrullinemia/*genetics , Organic Anion Transporters/*genetics, Animals ; Calcium-Binding Proteins/deficiency ; Cholestasis, Intrahepatic/surgery ; Chromosomes, Human, Pair 7 ; Citrullinemia/etiology ; Citrullinemia/surgery ; Humans ; Liver Transplantation ; Membrane Transport Proteins/genetics ; Mitochondrial Membrane Transport Proteins ; Mitochondrial Proteins/genetics ; Organic Anion Transporters/deficiency ; Point Mutation

المؤلفون: Yoshida G; Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan., Li MX, Horiuchi M, Nakagawa S, Sakata M, Kuchiiwa S, Kuchiiwa T, Jalil MA, Begum L, Lu YB, Iijima M, Hanada T, Nakazato M, Huang ZL, Eguchi N, Kobayashi K, Saheki T

المصدر: Neuroscience research [Neurosci Res] 2006 May; Vol. 55 (1), pp. 78-86. Date of Electronic Publication: 2006 Mar 15.

نوع المنشور: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: Ireland NLM ID: 8500749 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0168-0102 (Print) Linking ISSN: 01680102 NLM ISO Abbreviation: Neurosci Res Subsets: MEDLINE

مواضيع طبية MeSH: Carnitine/*deficiency , Fasting/*physiology , Intracellular Signaling Peptides and Proteins/*metabolism , Motor Activity/*genetics , Neurons/*physiology , Neuropeptides/*metabolism, Animals ; Behavior, Animal ; Blood Glucose ; Body Temperature/drug effects ; Body Temperature/physiology ; Carnitine/administration & dosage ; Electroencephalography/methods ; Fatty Acids, Nonesterified/blood ; Female ; Glucose/administration & dosage ; Immunohistochemistry/methods ; Mice ; Mice, Knockout ; Neurons/drug effects ; Orexins ; Polysomnography/methods ; Proto-Oncogene Proteins c-fos/metabolism ; Sleep, REM/drug effects ; Sleep, REM/physiology ; Sucrose/administration & dosage ; Time Factors

المؤلفون: Tazawa Y; Department of Pediatrics, Miyagi South Medical Center Hospital, Oogawara, Japan., Kobayashi K, Abukawa D, Nagata I, Maisawa S, Sumazaki R, Iizuka T, Hosoda Y, Okamoto M, Murakami J, Kaji S, Tabata A, Lu YB, Sakamoto O, Matsui A, Kanzaki S, Takada G, Saheki T, Iinuma K, Ohura T

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2004 Nov; Vol. 83 (3), pp. 213-9.

نوع المنشور: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print Cited Medium: Print ISSN: 1096-7192 (Print) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Calcium-Binding Proteins/*deficiency , Cholestasis, Intrahepatic/*genetics , Cholestasis, Intrahepatic/*pathology , Liver/*pathology , Membrane Transport Proteins/*genetics , Mitochondrial Proteins/*genetics , Organic Anion Transporters/*deficiency, Amino Acids/blood ; Anemia, Hemolytic/complications ; Anemia, Hemolytic/pathology ; Bile Acids and Salts/blood ; Biliary Atresia/complications ; Biliary Atresia/parasitology ; Blood Coagulation Factors ; Cholestasis, Intrahepatic/complications ; Cholestasis, Intrahepatic/diet therapy ; Citrullinemia/complications ; Citrullinemia/pathology ; DNA Mutational Analysis ; DNA Primers ; Female ; Food, Formulated ; Galactose/blood ; Hepatitis/complications ; Hepatitis/pathology ; Humans ; Hypoglycemia/complications ; Hypoglycemia/pathology ; Hypoproteinemia/complications ; Hypoproteinemia/pathology ; Infant ; Infant, Newborn ; Male ; Mitochondrial Membrane Transport Proteins ; Tyrosinemias/complications ; Tyrosinemias/pathology ; Vitamins/therapeutic use

المؤلفون: Saheki T; Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan. takesah@m.kufm.kagoshima-u.ac.jp, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao KJ, Yang Y

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2004 Apr; Vol. 81 Suppl 1, pp. S20-6.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print Cited Medium: Print ISSN: 1096-7192 (Print) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Calcium-Binding Proteins/*deficiency , Citrullinemia/*metabolism , Hepatitis/*metabolism , Organic Anion Transporters/*deficiency , Urea/*metabolism, Adult ; Citrullinemia/epidemiology ; Citrullinemia/genetics ; Citrullinemia/therapy ; Female ; Gene Frequency ; Hepatitis/epidemiology ; Hepatitis/genetics ; Humans ; Infant, Newborn ; Japan/epidemiology ; Liver/metabolism ; Male ; Membrane Transport Proteins/genetics ; Mitochondrial Membrane Transport Proteins ; Mitochondrial Proteins/genetics ; Models, Biological ; Mutation