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1Academic Journal
المؤلفون: Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Vu Chi Dung, Nguyen Ngoc Khanh, Ishwar C. Verma, Sunita Bijarnia-Mahay, Dong Hwan Lee, Dau-Ming Niu, Georg F. Hoffmann, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Fukuda, Takeshi Taketani, Seiji Yamaguchi
المصدر: Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 5-10 (2018)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Yogik Onky Silvana Wijaya, Jamiyan Purevsuren, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Yoshihiro Bouike, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Cempaka Thursina, Sunartini Hapsara, Seiji Yamaguchi, Hisahide Nishio, Masakazu Shinohara
المصدر: International Journal of Neonatal Screening, Vol 6, Iss 2, p 43 (2020)
مصطلحات موضوعية: spinal muscular atrophy, carrier, SMN1, dried blood spot, quantitative nested PCR, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Mariko Abe, Louis M Pelus, Pratibha Singh, Tomohiro Hirade, Chie Onishi, Jamiyan Purevsuren, Takeshi Taketani, Seiji Yamaguchi, Seiji Fukuda
المصدر: PLoS ONE, Vol 11, Iss 7, p e0158290 (2016)
وصف الملف: electronic resource
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المؤلفون: Georg F. Hoffmann, Takeshi Taketani, Naoaki Shibata, Dong Hwan Lee, Seiji Yamaguchi, Nguyen Ngoc Khanh, Toshiyuki Fukao, Yuki Hasegawa, Yosuke Shigematsu, Vu Chi Dung, Ishwar C. Verma, Dau-Ming Niu, Seiji Fukuda, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Sunita Bijarnia-Mahay, Kenji Yamada
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 16, Iss, Pp 5-10 (2018)مصطلحات موضوعية: 0301 basic medicine, Pediatrics, MS/MS, tandem mass spectrometry, BKTD, β-ketothiolase deficiency, HMGS, 3-hydroxy-3-methylglutaryl-CoA synthetase, PPA, propionic acidemia, HAD, 3-hydoxyacyl-CoA dehydrogenase, Methylmalonic acidemia, MMA, methylmalonic acidemia, TFP, trifunctional protein, SCAD, short-chain acyl-CoA dehydrogenase, Fatty acid oxidation disorder, Expanded newborn screening, NBS, newborn screening, Endocrinology, ENBS, expanded newborn screening, Amino acid disorder, PCD, primary carnitine deficiency, CTLN1, citrullinemia type I, Propionic acidemia, 4-OH-BA, 4-hydroxybutyric acidemia, lcsh:QH301-705.5, Beta oxidation, HCU, homocystinuria, MCD, multiple carboxylase deficiency, lcsh:R5-920, GC/MS, gas chromatography–mass spectrometry, VLCAD, very long-chain acyl-CoA dehydrogenase, Incidence (epidemiology), IMD, inherited metabolic disease, GA2, glutaric acidemia type II, ASA, argininosuccinic aciduria, HMGL, 3-hydroxy-3-methylglutaryl-CoA lyase, CPT2, carnitine palmitoyltransferase II, Organic acidemia, 2-OH-GA, 2-hydroxyglutaric acidemia, lcsh:Medicine (General), LCHAD, long-chain 3-hydroxyacyl-CoA dehydrogenase, Research Paper, medicine.medical_specialty, MGA, 3-methylglutaconic aciduria, PKU, phenylketonuria, AA, amino acid disorder, Incidence rate, GA1, glutaric acidemia type I, 03 medical and health sciences, UCD, urea cycle disorder, Genetics, medicine, CPT1, carnitine palmitoyltransferase I, Inherited metabolic disease, FAOD, fatty acid oxidation disorder, Molecular Biology, MSUD, maple syrup urine disease, Newborn screening, business.industry, Citrullinemia, Maple syrup urine disease, OA, organic acidemia, MCAD, medium-chain acyl-CoA dehydrogenase, medicine.disease, 030104 developmental biology, lcsh:Biology (General), MCCD, 3-methylcrotonyl-CoA carboxylase deficiency, OXPA, 5-oxoprolinemia, business, CACT, carnitine-acylcarnitine translocase
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5Academic Journal
المؤلفون: Seiji Fukuda, Mariko Abe, Chie Onishi, Takeshi Taketani, Jamiyan Purevsuren, Seiji Yamaguchi, Edward M. Conway, Louis M. Pelus
المصدر: Journal of Oncology, Vol 2011 (2011)
مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Relation: http://dx.doi.org/10.1155/2011/946936; https://doaj.org/toc/1687-8450; https://doaj.org/toc/1687-8469; https://doaj.org/article/f08ca55ea72640a5aed7c715456de0bf
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6
المؤلفون: Takeshi Taketani, Seiji Yamaguchi, Hironori Kobayashi, Yuki Hasegawa, Jamiyan Purevsuren, Tomoo Takahashi, Seiji Fukuda, Ryosuke Bo, Kenji Yamada, Yuichi Mushimoto
المصدر: Brain and Development. 39:48-57
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Cell Survival, Peroxisome Proliferator-Activated Receptors, Drug Evaluation, Preclinical, Enzyme Activators, Tandem mass spectrometry, Glutaric Acidemia Type II, Palmitic acid, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Developmental Neuroscience, Carnitine, Internal medicine, medicine, Humans, Age of Onset, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Acetylcarnitine, Cells, Cultured, Palmitoylcarnitine, Skin, Lipid Regulating Agents, Bezafibrate, Dose-Response Relationship, Drug, Infant, Newborn, Infant, General Medicine, Fibroblasts, In vitro, 030104 developmental biology, Endocrinology, chemistry, Cell culture, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), 030217 neurology & neurosurgery, medicine.drug
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المؤلفون: Haruo Shintaku, Jamiyan Purevsuren, Chogdon Narantsetseg, Baasandai Bolormaa, Munkhuu Bayalag, Ochirbat Enkhchimeg, SeijiYamaguchi, Renchindorj Batsolongo, Yuki Hasegawa
المصدر: Molecular Genetics and Metabolism Reports
مصطلحات موضوعية: medicine.medical_specialty, Urinary system, Physiology, Case Report, Inborn errors of metabolism, 010502 geochemistry & geophysics, 01 natural sciences, Excretion, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Genetics, medicine, Phenylketonuria, Molecular Biology, 0105 earth and related environmental sciences, Valproic Acid, Newborn screening, Psychomotor retardation, business.industry, Mongolia, medicine.disease, Hypotonia, Congenital hypothyroidism, Screening, Ketosis, medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug
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8
المؤلفون: Tomoo Takahashi, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yuki Hasegawa, Seiji Yamaguchi, Seiji Fukuda
المصدر: The Journal of Pediatrics. 173:183-187
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, medicine.drug_class, Antibiotics, Hypoglycemia, Gastroenterology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Tandem Mass Spectrometry, Carnitine, Internal medicine, Systemic primary carnitine deficiency, Humans, Medicine, 030212 general & internal medicine, Young adult, Child, Retrospective Studies, Free carnitine, Brain Diseases, business.industry, Infant, Retrospective cohort study, medicine.disease, Anti-Bacterial Agents, Endocrinology, Child, Preschool, Concomitant, Pediatrics, Perinatology and Child Health, Female, business, 030217 neurology & neurosurgery, medicine.drug
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9
المؤلفون: Takeshi Taketani, Hiroshi Takuma, Yuki Hasegawa, Yosuke Shigematsu, Mutsufusa Watanabe, Hideo Sugie, Hironori Kobayashi, Tomoo Takahashi, Taiji Tsunemi, Ayako Shioya, Seiji Fukuda, Jamiyan Purevsuren, Akiko Ishii, Hidehiro Mizusawa, Seiji Yamaguchi, Ryosuke Bo, Akira Tamaoka, Kenji Yamada, Takanori Yokota, Takuya Ohkubo
المصدر: Brain and Development. 38:293-301
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, myalgia, medicine.medical_specialty, Urinary system, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Developmental Neuroscience, Carnitine, Internal medicine, medicine, Humans, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Myopathy, chemistry.chemical_classification, Muscle Weakness, Muscle biopsy, medicine.diagnostic_test, business.industry, Age Factors, Fatty acid, Muscle weakness, General Medicine, 030104 developmental biology, Endocrinology, chemistry, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, Abnormality, business, 030217 neurology & neurosurgery, medicine.drug
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10Academic Journal
المؤلفون: Bo, Ryosuke, Yamada, Kenji, Kobayashi, Hironori, Jamiyan, Purevsuren, Hasegawa, Yuki, Taketani, Takeshi, Fukuda, Seiji, Hata, Ikue, Niida, Yo, Shigematsu, Yosuke, Iijima, Kazumoto, Yamaguchi, Seiji
المصدر: Journal of Human Genetics ; volume 62, issue 9, page 809-814 ; ISSN 1434-5161 1435-232X
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المؤلفون: Masaki Takayanagi, Tomoo Takahashi, Toshiyuki Fukao, Seiji Fukuda, Hironori Kobayashi, Kenji Yamada, Jamiyan Purevsuren, Seiji Yamaguchi, Yuki Hasegawa
المصدر: Analytical and Bioanalytical Chemistry. 405:1345-1351
مصطلحات موضوعية: Spectrometry, Mass, Electrospray Ionization, Carnitine-acylcarnitine translocase, Biochemistry, Lipid Metabolism, Inborn Errors, Analytical Chemistry, Carnitine palmitoyltransferase 1, Muscular Diseases, Tandem Mass Spectrometry, Carnitine, medicine, Extracellular, Humans, Hyperammonemia, Beta oxidation, Cells, Cultured, chemistry.chemical_classification, Carnitine O-Palmitoyltransferase, biology, Chemistry, Fatty Acids, food and beverages, Biological Transport, Fibroblasts, Hypoglycemia, Mitochondria, Enzyme, Carnitine Acyltransferases, biology.protein, Cardiomyopathies, Primary Carnitine Deficiency, Oxidation-Reduction, Intracellular, medicine.drug
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12
المؤلفون: Yuichi Mushimoto, Kenji Yamada, Tomoo Takahashi, Toshiyuki Fukao, Yuki Hasegawa, Seiji Fukuda, Seiji Yamaguchi, Hironori Kobayashi, Jamiyan Purevsuren
المصدر: Molecular Genetics and Metabolism. 107:237-240
مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, Endocrinology, Diabetes and Metabolism, Biology, Biochemistry, Asymptomatic, Gastroenterology, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Endocrinology, Asian People, Japan, Quality of life, Internal medicine, Genetics, medicine, Humans, Family, Sibling, Allele, Molecular Biology, Beta oxidation, Alleles, Mass screening, Fatty Acids, Infant, Exons, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Child, Preschool, Mutation, Female, medicine.symptom
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13
المؤلفون: Toshiyuki Fukao, Tomoo Takahashi, Yuichi Mushimoto, Kenji Yamada, Hong Li, Seiji Fukuda, Takeshi Taketani, Midori Furui, Hironori Kobayashi, Jamiyan Purevsuren, Seiji Yamaguchi, Yuki Hasegawa
المصدر: Molecular Genetics and Metabolism. 107:87-91
مصطلحات موضوعية: medicine.medical_specialty, Mitochondrial Diseases, Endocrinology, Diabetes and Metabolism, Carboxylic Acids, Peroxisome proliferator-activated receptor, Carnitine-acylcarnitine translocase, Biochemistry, Endocrinology, Carnitine, Internal medicine, Genetics, medicine, Humans, Multiple Acyl-CoA Dehydrogenase Deficiency, Receptor, Molecular Biology, Cells, Cultured, Mass screening, chemistry.chemical_classification, Bezafibrate, biology, Fatty Acids, Fibroblasts, Peroxisome, chemistry, biology.protein, Oxidation-Reduction, medicine.drug
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المؤلفون: Yuichi Mushimoto, Hong Li, Seiji Fukuda, Takeshi Taketani, Hironori Kobayashi, Jamiyan Purevsuren, Seiji Yamaguchi, Yuki Hasegawa
المصدر: Molecular Genetics and Metabolism. 102:343-348
مصطلحات موضوعية: Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Biology, Biochemistry, Asymptomatic, Gastroenterology, Fatty-acid metabolism disorder, Glutarates, Endocrinology, Genotype-phenotype distinction, Japan, Internal medicine, Gene Order, Genotype, Genetics, medicine, Humans, Multiple Acyl-CoA Dehydrogenase Deficiency, Amino Acid Metabolism, Inborn Errors, Molecular Biology, Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, Infant, Newborn, Infant, medicine.disease, Pedigree, Child, Preschool, Organic acidemia, Mutation, Female, Allelic heterogeneity, medicine.symptom, Glutaric Acidemia Type 1
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15
المؤلفون: Hong Li, Seiji Fukuda, Yuichi Mushimoto, Hironori Kobayashi, Jamiyan Purevsuren, Yuki Hasegawa, Seiji Yamaguchi
المصدر: Journal of Chromatography B. 878:1669-1672
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Clinical Biochemistry, Encephalopathy, Dehydrogenase, Mitochondrial trifunctional protein deficiency, Heat Stress Disorders, Biochemistry, Sudden death, Lipid Metabolism, Inborn Errors, Analytical Chemistry, Palmitic acid, chemistry.chemical_compound, Tandem Mass Spectrometry, Carnitine, Internal medicine, medicine, Humans, Child, chemistry.chemical_classification, Chromatography, Fatty Acids, Fatty acid, Cell Biology, General Medicine, Fibroblasts, medicine.disease, Mitochondria, Endocrinology, Enzyme, chemistry, Female, lipids (amino acids, peptides, and proteins), Oxidation-Reduction, medicine.drug
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16
المؤلفون: Hironori Kobayashi, Yuki Hasegawa, Jamiyan Purevsuren, Seiji Yamaguchi, Hong Li, Seiji Fukuda, Yuichi Mushimoto
المصدر: Brain and Development. 32:362-370
مصطلحات موضوعية: medicine.medical_specialty, Hot Temperature, Mitochondrial Diseases, Electrospray ionization, Dehydrogenase, Tandem mass spectrometry, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Palmitic acid, chemistry.chemical_compound, Developmental Neuroscience, Stress, Physiological, Carnitine, Internal medicine, medicine, Humans, Child, Acetylcarnitine, Cells, Cultured, Hypolipidemic Agents, chemistry.chemical_classification, Bezafibrate, Acyl-CoA Dehydrogenase, Long-Chain, Fatty Acids, digestive, oral, and skin physiology, food and beverages, Fatty acid, General Medicine, Fibroblasts, In vitro, Mitochondria, Endocrinology, chemistry, Biochemistry, Pediatrics, Perinatology and Child Health, Neurology (clinical), Oxidation-Reduction, medicine.drug
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المؤلفون: Seiji Yamaguchi, Yuichi Mushimoto, Toshiyuki Fukao, Yuki Hasegawa, Hong Li, Seiji Fukuda, Hironori Kobayashi, Jamiyan Purevsuren
المصدر: Molecular Genetics and Metabolism. 98:372-377
مصطلحات موضوعية: Cell Extracts, Male, DNA, Complementary, Mitochondrial Diseases, Adolescent, Endocrinology, Diabetes and Metabolism, Blotting, Western, Mutant, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein, Biology, Transfection, medicine.disease_cause, Biochemistry, Mitochondrial Proteins, Endocrinology, Asian People, Multienzyme Complexes, Genotype, Genetics, medicine, Humans, Missense mutation, Molecular Biology, Mutation, Mitochondrial Trifunctional Protein, Infant, Newborn, Infant, Fibroblasts, Acetyl-CoA C-Acyltransferase, medicine.disease, Molecular biology, Phenotype, Mitochondrial Trifunctional Protein, beta Subunit, biology.protein, Female, Mutant Proteins, Mitochondrial Trifunctional Protein, alpha Subunit, HADHB
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المصدر: Brain and Development. 30:520-526
مصطلحات موضوعية: Glycerol, Male, Vitamin, medicine.medical_specialty, Metabolite, Encephalopathy, Methylmalonic acidemia, Urine, Hypoglycemia, Gas Chromatography-Mass Spectrometry, chemistry.chemical_compound, Japan, Developmental Neuroscience, Internal medicine, Influenza, Human, medicine, Humans, Encephalitis, Viral, Child, Amino Acid Metabolism, Inborn Errors, Retrospective Studies, Valproic Acid, business.industry, Infant, nutritional and metabolic diseases, Hyperammonemia, General Medicine, medicine.disease, Endocrinology, chemistry, Child, Preschool, Organic acidemia, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, Metabolic Networks and Pathways, medicine.drug
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المصدر: Journal of Chromatography B. 855:80-87
مصطلحات موضوعية: Spectrometry, Mass, Electrospray Ionization, Urinary system, Clinical Biochemistry, Urine, Glutaric acid, Biochemistry, Lipid Metabolism, Inborn Errors, Analytical Chemistry, chemistry.chemical_compound, Tandem Mass Spectrometry, Carnitine, medicine, Humans, Beta oxidation, chemistry.chemical_classification, Newborn screening, Chromatography, Fatty Acids, Infant, nutritional and metabolic diseases, Fatty acid, Cell Biology, General Medicine, medicine.disease, chemistry, Organic acidemia, Propionates, Oxidation-Reduction, Metabolism, Inborn Errors, Methylmalonic Acid, medicine.drug
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المؤلفون: Takeshi Taketani, Louis M. Pelus, Pratibha Singh, Jamiyan Purevsuren, Seiji Fukuda, Tomohiro Hirade, Seiji Yamaguchi, Mariko Abe, Chie Onishi
المصدر: PLoS ONE
PLoS ONE, Vol 11, Iss 7, p e0158290 (2016)مصطلحات موضوعية: 0301 basic medicine, Physiology, Cell, lcsh:Medicine, Gene Expression, Hematologic Cancers and Related Disorders, Mice, Endocrinology, Cell Signaling, Animal Cells, hemic and lymphatic diseases, Medicine and Health Sciences, Cell Cycle and Cell Division, lcsh:Science, Multidisciplinary, Pre-B-Cell Leukemia Transcription Factor 1, Myeloid leukemia, hemic and immune systems, Hematology, Myeloid Leukemia, Haematopoiesis, Leukemia, medicine.anatomical_structure, Phenotype, Oncology, Tandem Repeat Sequences, Cell Processes, embryonic structures, Cytokines, Female, Signal transduction, Cellular Types, psychological phenomena and processes, Signal Transduction, Research Article, Cyclin-Dependent Kinase Inhibitor p21, Acute Myeloid Leukemia, Signal Inhibition, Bone Marrow Cells, Biology, Antibodies, 03 medical and health sciences, Growth Factors, Leukemias, medicine, Genetics, Animals, Humans, Cell Lineage, Gene Regulation, Benzothiazoles, Gene Silencing, Cell Proliferation, Homeodomain Proteins, Endocrine Physiology, Cell growth, Phenylurea Compounds, lcsh:R, Biology and Life Sciences, Cancers and Neoplasms, Cell Biology, medicine.disease, Hematopoietic Stem Cells, Cyclic AMP-Dependent Protein Kinases, body regions, Mice, Inbred C57BL, 030104 developmental biology, Gene Expression Regulation, fms-Like Tyrosine Kinase 3, Fms-Like Tyrosine Kinase 3, Cancer research, lcsh:Q, Bone marrow, Tumor Suppressor Protein p53, Gene Deletion, Transcription Factors