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1دورية أكاديمية
المؤلفون: Hiroyuki Iijima, Nobuyuki Ishige, Mitsuru Kubota
المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
مصطلحات موضوعية: cobalamin responsiveness, liquid chromatography tandem mass spectrometry, methylmalonic acidemia, newborn screening, Medicine (General), R5-920
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Yosuke Shigematsu, Miori Yuasa, Nobuyuki Ishige, Hideki Nakajima, Go Tajima
المصدر: International Journal of Neonatal Screening, Vol 7, Iss 3, p 44 (2021)
مصطلحات موضوعية: isomer, stable-isotope dilution, derivatization, homocystinuria, cobalamin, biotin, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3
المؤلفون: Kazuhiro Watanabe, Atsumi Tsuji-Hosokawa, Atsuko Hashimoto, Kaoru Konishi, Nobuyuki Ishige, Harumi Yajima, Akito Sutani, Hisae Nakatani, Maki Gau, Kei Takasawa, Toshihiro Tajima, Tomonobu Hasegawa, Tomohiro Morio, Kenichi Kashimada
المصدر: The Journal of Clinical Endocrinology & Metabolism. 107:3341-3352
مصطلحات موضوعية: Male, Hydrocortisone, Adrenal Hyperplasia, Congenital, 17-alpha-Hydroxyprogesterone, Endocrinology, Diabetes and Metabolism, Cortodoxone, Biochemistry (medical), Clinical Biochemistry, Infant, Newborn, Androstenedione, Endocrine System Diseases, Biochemistry, Neonatal Screening, Endocrinology, Tandem Mass Spectrometry, Androgens, Humans, Female, Steroids, Chromatography, Liquid
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2c40350f8a13a4ea774267097215279
https://doi.org/10.1210/clinem/dgac521 -
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المؤلفون: Tatsuo Fuchigami, Maki Furukawa, Koji Hashimoto, Toshiyuki Fukao, Nobuyuki Ishige, Mika Ishige, Ryoji Fujiki, Ichiro Morioka, Yasuji Inamo, Hideo Sasai, Erika Ogawa, Hironori Kobayashi
المصدر: Journal of Infection and Chemotherapy. 25:913-916
مصطلحات موضوعية: Rotavirus, 0301 basic medicine, Microbiology (medical), medicine.medical_specialty, 030106 microbiology, Hypoglycemia, medicine.disease_cause, Gastroenterology, Rotavirus Infections, Hepatitis, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Carnitine, Internal medicine, Systemic primary carnitine deficiency, medicine, Humans, Hyperammonemia, Pharmacology (medical), 030212 general & internal medicine, Newborn screening, business.industry, Fatty liver, Infant, medicine.disease, Gastroenteritis, Infectious Diseases, Acute Disease, Female, Steatosis, Cardiomyopathies, business, Primary Carnitine Deficiency, medicine.drug
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5
المؤلفون: Hideki Nakajima, Miori Yuasa, Yosuke Shigematsu, Nobuyuki Ishige, Go Tajima
المصدر: International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 7, Iss 44, p 44 (2021)
Volume 7
Issue 3مصطلحات موضوعية: argininesuccinic acid, 030213 general clinical medicine, Methylmalonic acid, Mass spectrometry, Tandem mass spectrometry, 01 natural sciences, Pediatrics, stable-isotope dilution, RJ1-570, Article, homocystinuria, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), Liquid chromatography–mass spectrometry, biotin, derivatization, Derivatization, cobalamin, Argininosuccinic acid, chemistry.chemical_classification, Newborn screening, Chromatography, 010401 analytical chemistry, Obstetrics and Gynecology, 0104 chemical sciences, Amino acid, isomer, chemistry, Pediatrics, Perinatology and Child Health, maternal 3-methylcronylglycinuria, argininosuccinic acid
وصف الملف: application/pdf
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6
المؤلفون: Mika Ishige, Kimitaka Nakazaki, Shori Takahashi, Erika Ogawa, Nobuyuki Ishige, Tatsuo Fuchigami
المصدر: The Tohoku Journal of Experimental Medicine. 244:279-282
مصطلحات موضوعية: Male, medicine.medical_specialty, Pivalic acid, medicine.drug_class, Antibiotics, Urine, Hypoglycemia, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Metabolic Diseases, Tandem Mass Spectrometry, Carnitine, Internal medicine, medicine, Humans, 030212 general & internal medicine, Pentanoic Acids, chemistry.chemical_classification, Metabolic disorder, Infant, Fatty acid, General Medicine, Prodrug, medicine.disease, Carbon, Anti-Bacterial Agents, Oxygen, Endocrinology, chemistry, 030217 neurology & neurosurgery, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27de5b4586e61709c02cf9e1f49404fc
https://doi.org/10.1620/tjem.244.279 -
7
المؤلفون: Toshiyuki Fukao, Ryoji Fujiki, Akira Ohtake, Yusuke Hamada, Satoshi Okada, Ikue Hata, Ryosuke Bo, Nobuo Sakura, Go Tajima, Hideo Sasai, Atsuko Noguchi, Shinsuke Maruyama, Sayaka Ajihara, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Yosuke Shigematsu, Mika Ishige, Masaki Takayanagi, Masao Kobayashi, Osamu Ohara, Reiko Kagawa, Seiji Yamaguchi, Tomotaka Kono, Nobuyuki Ishige, Ikuma Musha, Miyuki Tsumura, Etsuo Naito, Keiichi Hara, Tomonari Awaya, Tomoko Asada
المصدر: Molecular genetics and metabolism. 122(3)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Disease, Biochemistry, Gastroenterology, Sensitivity and Specificity, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Neonatal Screening, Tandem Mass Spectrometry, Internal medicine, Genetics, medicine, Humans, False Positive Reactions, Carnitine, Allele, Molecular Biology, Beta oxidation, False Negative Reactions, Alleles, Newborn screening, Hypoglycemic encephalopathy, Carnitine O-Palmitoyltransferase, business.industry, Infant, Newborn, Palmitoylcarnitine, food and beverages, Infant, medicine.disease, Hypoglycemia, CPT II Deficiency, 030104 developmental biology, Female, Carnitine palmitoyltransferase II deficiency, Dried Blood Spot Testing, business, 030217 neurology & neurosurgery, Metabolism, Inborn Errors, medicine.drug
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8
المؤلفون: Ryosuke Bo, Tomoo Takahashi, Nobuyuki Ishige, Yuki Hasegawa, Seiji Yamaguchi, Hironori Kobayashi, Kenji Yamada, Makoto Nakamura
المصدر: Molecular genetics and metabolism. 116(3)
مصطلحات موضوعية: medicine.medical_specialty, ARDS, Serine Proteinase Inhibitors, Endocrinology, Diabetes and Metabolism, Urinary system, Glycine, Biochemistry, Gastroenterology, chemistry.chemical_compound, Endocrinology, Neonatal Screening, Muscular Diseases, Tandem Mass Spectrometry, Internal medicine, Carnitine, Genetics, Medicine, Humans, Hyperammonemia, Molecular Biology, Amino Acid Metabolism, Inborn Errors, Newborn screening, Sulfonamides, biology, Isovaleryl-CoA Dehydrogenase, business.industry, Sivelestat, Infant, Newborn, medicine.disease, Isovaleric Acidemia, Surgery, chemistry, Neutrophil elastase, Child, Preschool, biology.protein, Gestation, Female, business, Cardiomyopathies, medicine.drug, Chromatography, Liquid
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9
المؤلفون: Teruo Kitagawa, Nobuyuki Ishige, Takashi Kodama, Toshihiro Suzuki, Toya Ohashi, Hitoshi Sakuraba, Kanako Sugawara, Tadayasu Togawa, Takahiro Tsukimura, Ken Suzuki
المصدر: Molecular Genetics and Metabolism. 100:257-261
مصطلحات موضوعية: Adult, Male, Heterozygote, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Globotriaosylceramide, Biochemistry, Asymptomatic, Gastroenterology, Fabry patient, Young Adult, chemistry.chemical_compound, Endocrinology, Internal medicine, Genetics, medicine, Humans, Molecular Biology, Aged, Sphingolipids, Chemistry, Trihexosylceramides, Genetic disorder, Heterozygote advantage, Enzyme replacement therapy, Middle Aged, respiratory system, medicine.disease, Fabry disease, Recombinant Proteins, Case-Control Studies, alpha-Galactosidase, Fabry Disease, Biomarker (medicine), Female, lipids (amino acids, peptides, and proteins), Glycolipids, medicine.symptom, Biomarkers
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10
المؤلفون: Toya Ohashi, Masahisa Kobayashi, Akemi Tanaka, Yoshikatsu Eto, Hideo Odaka, Nobuyuki Ishige, Teruo Kitagawa, Ken Suzuki, Misao Owada
المصدر: Pediatric Nephrology. 23:1461-1471
مصطلحات موضوعية: Adult, Male, Heterozygote, medicine.medical_specialty, Adolescent, Urinary system, Globotriaosylceramide, Pilot Projects, Urine, Gastroenterology, chemistry.chemical_compound, Internal medicine, Humans, Medicine, Child, Aged, business.industry, Trihexosylceramides, Non invasive, Heterozygote advantage, Middle Aged, medicine.disease, Molecular biology, Fabry disease, Risk screening, chemistry, Nephrology, Child, Preschool, alpha-Galactosidase, Pediatrics, Perinatology and Child Health, Fabry Disease, Female, business, Urine sample, Biomarkers