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المؤلفون: Masahide Yazaki, Ryusei Nishigori, Yasuyuki Takai, Akihiro Kawata, Toshihiro Ohura, Shinsuke Tobisawa, Tomiko Kuhara, Ryohei Norioka, Asuka Funai, Kazushi Takahashi, Masayoshi Nagao, Kazuhito Miyamoto
المصدر: Intractable Rare Dis Res
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Argininosuccinate synthase, Case Report, 030105 genetics & heredity, Gene mutation, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, biology, business.industry, Citrullinemia, Hyperammonemia, General Medicine, Ornithine, medicine.disease, Endocrinology, Citrin, chemistry, Saccharopine, Saccharopinuria, biology.protein, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a64940e36b82d3d3a70eade4e8b924f1
https://europepmc.org/articles/PMC8122307/ -
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المؤلفون: Fengyang Wang, Yuwei Chang, Fengxia Zhang, Qiwen Gan, Min Wang, Guodong Wang, Zhaonan Ban, Chonglin Yang, Weixiang Guo, Yudong Jing, Shaohuan Wu, Xin Wang, Ye Guo, Wenfeng Qian, Ruofeng Tang, Liyuan Zhao, Junxiang Zhou, Qian Zhang
المصدر: The Journal of Cell Biology
مصطلحات موضوعية: Hyperlysinemia, Mitochondria, Liver, Saccharomyces cerevisiae, Biology, Mitochondrion, complex mixtures, Article, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Commentaries, Hyperlysinemias, medicine, Animals, Homeostasis, Spotlight, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Research Articles, 030304 developmental biology, 0303 health sciences, ATP synthase, Catabolism, Lysine, Saccharopine dehydrogenase, Cell Biology, medicine.disease, Mitochondria, Cell biology, Mitochondrial toxicity, chemistry, Saccharopine, Saccharopinuria, Mutation, biology.protein, bacteria, Saccharopine Dehydrogenases, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5022715f1f5a1f049aefd34d32d0ce31
https://doi.org/10.1083/jcb.201807204 -
3دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
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المؤلفون: Georg F. Hoffmann, Stefan Kölker
المصدر: Inborn Metabolic Diseases ISBN: 9783662497692
Inborn Metabolic Diseases ISBN: 9783642157196
Inborn Metabolic Diseases ISBN: 9783662631225مصطلحات موضوعية: chemistry.chemical_classification, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, Glutaric aciduria, nutritional and metabolic diseases, Metabolism, Glutaric acid, medicine.disease, Canavan disease, chemistry.chemical_compound, Endocrinology, Biochemistry, chemistry, Internal medicine, Saccharopinuria, medicine, Clinical significance, business, Pipecolic acid, Organic acid
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcaa8a73592b86408ecb3438d1173ab4
https://doi.org/10.1007/978-3-662-49771-5_22 -
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المؤلفون: T. Johansson, Pertti Aula, Olli Simell
المصدر: The Journal of Pediatrics. 82:54-57
مصطلحات موضوعية: medicine.medical_specialty, Adipates, Lysine, Enzyme defect, Urine, Biology, Reductase, complex mixtures, Glutarates, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Intellectual Disability, 030225 pediatrics, Internal medicine, medicine, Humans, Paralysis, NADH, NADPH Oxidoreductases, Amines, Amino Acid Metabolism, Inborn Errors, Cells, Cultured, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Muscles, Metabolism, Fibroblasts, medicine.disease, 3. Good health, Endocrinology, Enzyme, chemistry, Saccharopine, Child, Preschool, Saccharopinuria, Pediatrics, Perinatology and Child Health, bacteria, Female, Oxidoreductases
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المؤلفون: Thôrsten A. Fjellstedt, Maurice Ogur
المصدر: Journal of Bacteriology. 101:108-117
مصطلحات موضوعية: chemistry.chemical_classification, Lysine, Wild type, Hyperlysinemia, Saccharopine dehydrogenase, Reductase, Biology, medicine.disease, Microbiology, Molecular biology, chemistry.chemical_compound, Enzyme, Biochemistry, chemistry, Saccharopine, Saccharopinuria, medicine, Molecular Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dc4b0762ae007932ac1f5d82d9708c29
https://doi.org/10.1128/jb.101.1.108-117.1970 -
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المصدر: Enzyme. 29(4)
مصطلحات موضوعية: Homocitrulline, Ornithine, Protein Denaturation, Hot Temperature, Lysine, Ornithine transcarbamylase, Hyperlysinemia, Mitochondria, Liver, medicine.disease, complex mixtures, Biochemistry, chemistry.chemical_compound, chemistry, Mitochondrial matrix, Saccharopinuria, medicine, bacteria, Animals, Specific activity, Cattle, Ornithine Carbamoyltransferase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9757c30ce2f573f8d653ed5e4fc8208
https://pubmed.ncbi.nlm.nih.gov/6409607 -
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المؤلفون: R. A. Chalmers, A. M. Lawson
المصدر: Organic Acids in Man ISBN: 9789400957800
مصطلحات موضوعية: chemistry.chemical_classification, Decarboxylation, Transamination, Lysine, Metabolism, Reductase, medicine.disease, complex mixtures, chemistry.chemical_compound, chemistry, Biochemistry, Saccharopine, Saccharopinuria, medicine, bacteria, Pipecolic acid
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9afa201062cf04c969607f1952c7bc22
https://doi.org/10.1007/978-94-009-5778-7_13 -
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المصدر: The Journal of pediatrics. 95(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, Hyperlysinemia, Cystine, Urine, Reductase, Diagnosis, Differential, chemistry.chemical_compound, Internal medicine, Medicine, Humans, Ketoglutarate Dehydrogenase Complex, Renal Aminoacidurias, Child, Cells, Cultured, Skin, Oxidoreductases Acting on CH-NH Group Donors, Cystinuria, business.industry, Lysine, Saccharopine dehydrogenase, Ketone Oxidoreductases, Fibroblasts, medicine.disease, Endocrinology, chemistry, Saccharopine, Saccharopinuria, Pediatrics, Perinatology and Child Health, Saccharopine Dehydrogenases, business, Deficiency Diseases
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المؤلفون: Florence C. I. Fellows, Nina A. J. Carson
المصدر: Pediatric research. 8(1)
مصطلحات موضوعية: Electrophoresis, medicine.medical_specialty, Chromatography, Paper, Lysine, Hyperlysinemia, Reductase, In Vitro Techniques, complex mixtures, Glutarates, chemistry.chemical_compound, Oxidoreductase, Internal medicine, medicine, Citrulline, Humans, Carbon Radioisotopes, Enzyme inducer, Amino Acid Metabolism, Inborn Errors, Cells, Cultured, Skin, chemistry.chemical_classification, biology, Fibroblasts, medicine.disease, Mitochondria, Endocrinology, chemistry, Biochemistry, Saccharopine, Saccharopinuria, Enzyme Induction, Pediatrics, Perinatology and Child Health, biology.protein, bacteria, Ketoglutaric Acids, Oxidoreductases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::450bdf82e7a8c5716e5e54561a20f15f
https://pubmed.ncbi.nlm.nih.gov/4809305