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1دورية أكاديمية
المؤلفون: Khairy Abdella
المصدر: Egyptian Pediatric Association Gazette, Vol 71, Iss 1, Pp 1-4 (2023)
مصطلحات موضوعية: Propionic acidaemia, Neurometabolic disorders, Propionyl-CoA carboxylase deficiency, DWI, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2090-9942Test
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2
المؤلفون: William Kogel, Srikrishna Seeni, Jordan Markel, Andrew Mlady, Luke Landolt, Lemuel Sibulo
المصدر: Journal of Medical Cases
مصطلحات موضوعية: medicine.medical_specialty, Propionyl-CoA carboxylase deficiency, SARS-CoV-2, business.industry, Cardiomyopathy, COVID-19, Case Report, Metabolic acidosis, Hyperammonemia, Propionic acidemia, medicine.disease, Anesthetic management, Gastroenterology, Hypotonia, Inborn error of metabolism, Internal medicine, Bacteremia, Staphylococcus epidermidis, medicine, Pancreatitis, Pediatric anesthesia, medicine.symptom, business, Metabolic crisis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::192ce124fb559f781eb27fe78e3c4d17Test
https://doi.org/10.14740/jmc3628Test -
3دورية أكاديمية
المؤلفون: Isamu MATSUMOTO, Masafumi MATSUO, Masahiro MATSUMOTO, Takashi OHKURA, Tomiko KUHARA, Tsuneo AOYAMA, Yoshito INOUE
المصدر: Journal of Clinical Biochemistry and Nutrition. 1989, 7(1):1
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4
المؤلفون: François Van Hoof, André Schanck, Edmond de Hoffmann, R. Libert, Marc Thillaye, Marie-Cécile Nassogne, Marie-Françoise Vincent
المصدر: Clinica Chimica Acta. 295:87-96
مصطلحات موضوعية: Adult, Male, Methylmalonyl-CoA Decarboxylase, Carboxy-Lyases, Clinical Biochemistry, Methylmalonic acidemia, Methylmalonic acid, Propionyl-CoA carboxylase, Urine, Spectrometry, Mass, Fast Atom Bombardment, Biochemistry, Gas Chromatography-Mass Spectrometry, Lipid Metabolism, Inborn Errors, chemistry.chemical_compound, Carnitine, medicine, Humans, chemistry.chemical_classification, Chromatography, Propionyl-CoA carboxylase deficiency, Biochemistry (medical), Infant, Fatty acid, General Medicine, medicine.disease, chemistry, Case-Control Studies, Propionates, Gas chromatography–mass spectrometry, Methylmalonic Acid, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9faa000b8557fbde995b26f64503cef4Test
https://doi.org/10.1016/s0009-8981Test(00)00195-9 -
5
المؤلفون: Roy A. Gravel, Daniel Leclerc, Magali Loyer
المصدر: Human Molecular Genetics. 4:1035-1039
مصطلحات موضوعية: DNA, Complementary, Methylmalonyl-CoA Decarboxylase, Microinjections, Carboxy-Lyases, Mutant, Propionyl-CoA carboxylase, Biology, medicine.disease_cause, Cell Line, Complementary DNA, Genetics, medicine, Humans, Amino Acid Metabolism, Inborn Errors, Molecular Biology, Gene, Genetics (clinical), Mutation, Propionyl-CoA carboxylase deficiency, Point mutation, Genetic Complementation Test, General Medicine, Fibroblasts, Molecular biology, Complementation, Propionates, Plasmids
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a3a025b4e731fbae8b5747b082ea296Test
https://doi.org/10.1093/hmg/4.6.1035Test -
6
المؤلفون: Lodewyk J. Mienie, Marinus Duran, W J de Wet, Sybe K. Wadman, J. P. G. van Rooyen, Elardus Erasmus
المصدر: Clinica chimica acta; international journal of clinical chemistry. 230(1)
مصطلحات موضوعية: Male, Methylmalonyl-CoA Decarboxylase, Carboxy-Lyases, Clinical Biochemistry, Citrate (si)-Synthase, Biochemistry, Gas Chromatography-Mass Spectrometry, chemistry.chemical_compound, Organic chemistry, Citrate synthase, Humans, chemistry.chemical_classification, Propionyl-CoA carboxylase deficiency, biology, Biochemistry (medical), Infant, Newborn, Tricarboxylic Acids, General Medicine, Reference Standards, Homocitric acid, Condensation reaction, Propionyl-coenzyme A carboxylase, Enzyme, chemistry, biology.protein, Ketoglutaric Acids, Aldol condensation, Female, Propionates, Citric acid, Acidosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::214eaf64adced6c81c5fe6f4969fbed7Test
https://pubmed.ncbi.nlm.nih.gov/7850997Test -
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المؤلفون: Lawrence Sweetman, David Hull, Seth P Bates, William L. Nyhan
المصدر: Pediatric Research. 11:1144-1147
مصطلحات موضوعية: Male, medicine.medical_specialty, Carboxy-Lyases, Glycine, Biotin, Biology, Excretion, chemistry.chemical_compound, Leucine, Internal medicine, medicine, Humans, Citrates, Renal Aminoacidurias, Propionic acidemia, Holocarboxylase synthetase deficiency, Propionyl-CoA carboxylase deficiency, Infant, Fibroblasts, medicine.disease, Pyruvate carboxylase, Endocrinology, Biochemistry, chemistry, Creatinine, Crotonates, Pediatrics, Perinatology and Child Health, Propionates, Multiple carboxylase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7f19c0dda7f4ce31d7e40b4c0a21956Test
https://doi.org/10.1203/00006450-197711000-00006Test -
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المؤلفون: Masafumi Matsuo, Tsuneo Aoyama, Masahiro Matsumoto, Takashi Ohkura, Tomiko Kuhara, Isamu Matsumoto, Yoshito Inoue
المصدر: Journal of Clinical Biochemistry and Nutrition. 7:1-7
مصطلحات موضوعية: medicine.medical_specialty, Nutrition and Dietetics, Propionyl-CoA carboxylase deficiency, Chemistry, Urinary system, Clinical Biochemistry, Medicine (miscellaneous), medicine.disease, Asymptomatic, Gastroenterology, Endocrinology, Internal medicine, medicine, medicine.symptom, Sibling, Propionic acidemia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b59fa85887ddfb280e81959e0b725b4aTest
https://doi.org/10.3164/jcbn.7.1Test -
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المؤلفون: Catherine McKeon, Barry Wolf, Robert Z. Eanes
المصدر: Biochemical Genetics. 20:77-94
مصطلحات موضوعية: Adult, Methylmalonyl-CoA Decarboxylase, Adolescent, Carboxy-Lyases, Placenta, Mutant, Propionyl-CoA carboxylase, macromolecular substances, Biology, Gene mutation, Biochemistry, chemistry.chemical_compound, Adenosine Triphosphate, Genetics, Humans, Propionyl-CoA, Child, Molecular Biology, Ecology, Evolution, Behavior and Systematics, chemistry.chemical_classification, Propionyl-CoA carboxylase deficiency, Genetic Complementation Test, Infant, Newborn, Infant, General Medicine, Middle Aged, Molecular biology, Enzyme structure, Complementation, Bicarbonates, Kinetics, Enzyme, Liver, chemistry, Child, Preschool, bacteria, Electrophoresis, Polyacrylamide Gel, Acyl Coenzyme A, Isoelectric Focusing, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb77cd837431c648f52cfe18b5748c7fTest
https://doi.org/10.1007/bf00484937Test -
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المصدر: Biological Mass Spectrometry. 10:629-632
مصطلحات موضوعية: chemistry.chemical_classification, Methylmalonyl-CoA Decarboxylase, Carboxy-lyases, Propionyl-CoA carboxylase deficiency, Carboxy-Lyases, Metabolite, Infant, Urine, Gas Chromatography-Mass Spectrometry, Meglutol, Glutarates, chemistry.chemical_compound, Enzyme, chemistry, Biochemistry, Humans, Female, Propionates, Gas chromatography–mass spectrometry, Methylmalonyl-CoA decarboxylase, Spectroscopy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226f2d6963a19cb46501ecca91543fefTest
https://doi.org/10.1002/bms.1200101202Test