المؤلفون: Tomonori Suyama, Masaru Shimura, Takuya Fushimi, Naomi Kuranobu, Keiko Ichimoto, Ayako Matsunaga, Masaki Takayanagi, Kei Murayama

المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100610- (2020)

مصطلحات موضوعية: Bezafibrate, TFP deficiency, Myalgia, Rhabdomyolysis, Fatty acid β-oxidation disorders (FAODs), l-carnitine, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920300562; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/0726746abbe641609cf7bcdb0d288573

المؤلفون: Jack G. Shi, Manju Gupta, Sun Ku Lee, Kathleen McKeever

المصدر: Clinical Pharmacology in Drug Development

مصطلحات موضوعية: Adult, Male, Adolescent, Metabolite, triheptanoin, Pharmaceutical Science, Original Manuscript, Pharmacology, 030226 pharmacology & pharmacy, Lipid Metabolism, Inborn Errors, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Oral administration, heptanoate, Humans, Medicine, Pharmacology (medical), Child, Beta oxidation, Triglycerides, Active metabolite, Cross-Over Studies, 3-Hydroxybutyric Acid, Triglyceride, business.industry, Fatty Acids, Articles, Middle Aged, Healthy Volunteers, Heptanoates, Triheptanoin, chemistry, LC‐FAODs, 030220 oncology & carcinogenesis, Female, Long chain fatty acid, business, Energy source, Oxidation-Reduction, pharmacokinetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a91c4d67586a90492c42ba41d4a3626
https://doi.org/10.1002/cpdd.944

المؤلفون: Marta Camilot, R. Nurti, Gaetano Cantalupo, Alice Maguolo, F. Lupi, Erika Rigotti, Giorgio Piacentini, Francesca Teofoli, Andrea Pasini, F. Ion Popa, Monica Vincenzi, Paola Tonin, Giulia Rodella, Grazia Molinaro, Leonardo Salviati, A. Dianin, F. Pellegrini, Natascia Campostrini, A. Bordugo, I. Monge, Sara Tucci

المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100632-(2020)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: FAODs, fatty acid oxidation disorders, Pediatrics, MCADD, medium-chain acyl-CoA dehydrogenase deficiency, MADD, multiple acyl-CoA dehydrogenase deficiency, ALT, TFPD, trifunctional protein deficiency, polymerase chain reaction, Myopathy, DBS, medium-chain acyl-CoA dehydrogenase deficiency, CUD, Mitochondrial fatty acid, CACTD, Expanded newborn screening, NBS, newborn screening, DNA, Deoxyribonucleic acid, 0302 clinical medicine, Endocrinology, NBS, PCR, polymerase chain reaction, carnitine uptake defect, Genotype, very-long-chain acyl-CoA dehydrogenase deficiency, SCADD, Medicine, FAODs, lcsh:QH301-705.5, LCHADD, next generation sequencing, trifunctional protein deficiency, SCADD, short chain acyl-CoA dehydrogenase deficiency, 0303 health sciences, DBS, dried blood spots, Synergistic heterozygosity, lcsh:R5-920, medicine.diagnostic_test, Deoxyribonucleic acid, LCHADD, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Incidence (epidemiology), 030305 genetics & heredity, PCR, CK, NGS, dried blood spots, medicine.symptom, VLCADD, AST, Aspartate aminotransferase, lcsh:Medicine (General), Research Paper, medicine.medical_specialty, fatty acid oxidation disorders, Urinary system, Enzymatic activity, Fatty acid oxidation defects, Hypoglycaemia, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, MCADD, Aspartate aminotransferase, carnitine palmitoyl-CoA transferase 1/2 deficiency, short chain acyl-CoA dehydrogenase deficiency, 03 medical and health sciences, multiple acyl-CoA dehydrogenase deficiency, CACTD, carnitine-acylcarnitine translocase deficiency, TFPD, tandem mass spectrometry, Genetics, CUD, carnitine uptake defect, CPT1/2 D, carnitine palmitoyl-CoA transferase 1/2 deficiency, Molecular Biology, AST, Genetic testing, Newborn screening, business.industry, creatine kinase, newborn screening, ALT, Alanine aminotransferase, CPT1/2 D, MADD, NGS, next generation sequencing, carnitine-acylcarnitine translocase deficiency, DNA, medicine.disease, lcsh:Biology (General), VLCADD, very-long-chain acyl-CoA dehydrogenase deficiency, TMS, Alanine aminotransferase, TMS, tandem mass spectrometry, business, 030217 neurology & neurosurgery, CK, creatine kinase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c463ae5eb845bc19b2592d9ea19797e
http://www.sciencedirect.com/science/article/pii/S2214426920300781

المؤلفون: Asami Watanabe, Yusuke Hamada, Saki Yokoshiki, Kenji Watanabe, Kiyotaka Nakamagoe, Takashi Miyakoshi, Hideaki Shiraishi, Norihiro Sato, Fumihiro Ochi, Seiji Yamaguchi, Naoko Asahina, Kota Ono, Toshiyuki Isoe, Koji Oba, Toshiyuki Fukao, Mika Ishige, Hiroshi Hayashi, Norio Sakai, Kazuyo Kuzume, Akira Tamaoka, Kenji Yamada, Eishin Oki, Koji Sameshima, Sanae Kawakami

المصدر: Molecular Genetics and Metabolism Reports, Vol 15, Iss, Pp 55-63 (2018)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Visual analogue scale, Carnitine palmitoyltransferase-II (CPT-2) deficiency, Population, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Quality of life, Bezafibrate, Fatty acid oxidation disorders (FAODs), Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, Clinical trial, Internal medicine, Genetics, Clinical endpoint, medicine, Carnitine, education, Molecular Biology, lcsh:QH301-705.5, education.field_of_study, lcsh:R5-920, biology, business.industry, 030104 developmental biology, lcsh:Biology (General), biology.protein, Creatine kinase, business, lcsh:Medicine (General), 030217 neurology & neurosurgery, Research Paper, medicine.drug

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f806d3c4347e3a27aff092270b28c1fb
http://www.sciencedirect.com/science/article/pii/S2214426918300077

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المؤلفون: Toshiyuki Fukao, Mika Ishige, Hiroshi Hayashi, Hideaki Shiraishi, Asami Watanabe, Takashi Miyakoshi, Koji Oba, Yusuke Hamada, Seiji Yamaguchi, Norihiro Sato, Fumihiro Ochi, Naoko Asahina, Norio Sakai, Eishin Oki, Akira Tamaoka, Kenji Yamada, Kazuyo Kuzume, Sanae Kawakami, Koji Sameshima, Saki Yokoshiki, Toshiyuki Isoe, Kiyotaka Nakamagoe, Kenji Watanabe

المصدر: Molecular Genetics and Metabolism Reports, Vol 20, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Quality of life, medicine.medical_specialty, Carnitine palmitoyltransferase-II (CPT-2) deficiency, Endocrinology, Internal medicine, Genetics, medicine, In patient, Carnitine, lcsh:QH301-705.5, Molecular Biology, Beta oxidation, lcsh:R5-920, Bezafibrate, business.industry, Mental health, Fatty acid oxidation disorders (FAODs), Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, Clinical trial, lcsh:Biology (General), Open label, lcsh:Medicine (General), business, Research Paper, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91988820fd4d7c411908d0c148a6b0f0
http://hdl.handle.net/2115/76033

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