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1دورية أكاديمية
المؤلفون: Chen, Yan, Zelnick, Leila R, Huber, Matthew P, Wang, Ke, Bansal, Nisha, Hoofnagle, Andrew N, Paranji, Rajan K, Heckbert, Susan R, Weiss, Noel S, Go, Alan S, Hsu, Chi-yuan, Feldman, Harold I, Waikar, Sushrut S, Mehta, Rupal C, Srivastava, Anand, Seliger, Stephen L, Lash, James P, Porter, Anna C, Raj, Dominic S, Kestenbaum, Bryan R, Investigators, CRIC Study, Appel, Lawrence J, He, Jiang, Rao, Panduranga S, Rahman, Mahboob, Townsend, Raymond R
المصدر: American Journal of Kidney Diseases. 78(2)
مصطلحات موضوعية: Kidney Disease, Clinical Research, Cardiovascular, Prevention, Heart Disease, Renal and urogenital, Aged, Albuminuria, Chromatography, Liquid, Cohort Studies, Cresols, Female, Glomerular Filtration Rate, Glycine, Heart Failure, Humans, Incidence, Indican, Kidney Tubules, Kynurenic Acid, Male, Middle Aged, Myocardial Infarction, Organic Anion Transporters, Proportional Hazards Models, Prospective Studies, Pyridoxic Acid, Renal Insufficiency, Chronic, Ribonucleosides, Stroke, Sulfuric Acid Esters, Tandem Mass Spectrometry, Xanthines, CRIC Study Investigators, cardiovascular disease, chronic kidney disease, cinnamoylglycine, glomerular filtration rate, heart failure, indoxyl sulfate, isovalerylglycine, kynurenic acid, myocardial infarction, p-cresol sulfate, protein-bound, proximal tubule, pyridoxic acid, renal function, secretory solute clearance, stroke, tiglylglycine, tubular secretion, tubular secretory clearance, uremic toxins, xanthosine, Clinical Sciences, Public Health and Health Services, Urology & Nephrology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1jt5x0ndTest
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2
المؤلفون: Thivanka Vishwani Manawadu, Pradeep Gamage, Anusha Varuni Gunarathne, Eresha Jasinge, Meranthi Fernando
المصدر: Indian Journal of Clinical Biochemistry
مصطلحات موضوعية: 0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, Circulatory collapse, Beta-ketothiolase deficiency, Clinical Biochemistry, Case Report, Tiglylglycine, 03 medical and health sciences, Metabolic ketoacidosis, 0302 clinical medicine, medicine, Missense mutation, First episode, ACAT1, business.industry, Genetic disorder, medicine.disease, Urine organic acid, 030104 developmental biology, 030220 oncology & carcinogenesis, business, Urine organic acids
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e67632e61280a0d0026218e4568affb5Test
http://europepmc.org/articles/PMC7093605Test -
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المؤلفون: Lawrence Sweetman, William L. Nyhan, D. Lehotay, S. Aramaki, Susan Winter, Bruce Middleton
المصدر: Journal of inherited metabolic disease. 14(1)
مصطلحات موضوعية: Male, medicine.medical_specialty, Decarboxylation, Glycine, Hydroxybutyrates, Urine, Acetoacetates, Urinary excretion, Internal medicine, Genetics, 2-Methyl-3-hydroxybutyrate, medicine, Humans, Isoleucine, Genetics (clinical), Tiglylglycine, chemistry.chemical_classification, Thiolase, Infant, Acetyl-CoA C-Acyltransferase, Butanones, Enzyme, Endocrinology, chemistry, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4037c9146d42516379bd379cef5c708dTest
https://pubmed.ncbi.nlm.nih.gov/1861461Test -
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المؤلفون: D. C. Plunket, William L. Nyhan, Lawrence Sweetman, Y. Zomer, J. Cravens
المصدر: Journal of inherited metabolic disease. 2(3)
مصطلحات موضوعية: Male, medicine.medical_specialty, Methylmalonyl-CoA Decarboxylase, Carboxy-Lyases, Pancytopenia, Lethargy, Propionylglycine, Pregnancy, Internal medicine, Genetics, Medicine, Humans, Amino Acids, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Tiglylglycine, Cells, Cultured, business.industry, Clinical Laboratory Techniques, Infant, Clinical Enzyme Tests, Fibroblasts, Pyruvate carboxylase, Endocrinology, medicine.anatomical_structure, Child, Preschool, Glycine, Vomiting, Female, Bone marrow, medicine.symptom, Propionates, business, Propionic acidaemia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c11f69bea952d3e9a149695a6ca61372Test
https://pubmed.ncbi.nlm.nih.gov/6796762Test -
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المؤلفون: Oddvar Stokke, E. Jellum, Sverre Halvorsen
المصدر: Acta paediatrica Scandinavica. 68(1)
مصطلحات موضوعية: Male, medicine.medical_specialty, Chromatography, Gas, Adolescent, Hydroxybutyrates, Mass Spectrometry, Acetoacetates, Internal medicine, medicine, 2-Methyl-3-hydroxybutyrate, Humans, Tiglylglycine, business.industry, Metabolic acidosis, General Medicine, medicine.disease, Acetyl-CoA C-Acyltransferase, Mass spectrometric, Ketoacidosis, Endocrinology, Dietary treatment, Biochemistry, Creatinine, Pediatrics, Perinatology and Child Health, Variant form, Ketone bodies, business, Acidosis, Acyltransferases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68b77a3a310466553171a814aa11f272Test
https://pubmed.ncbi.nlm.nih.gov/758725Test -
6Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency
المؤلفون: A. Jiménez, F. Omeñaca, Begoña Merinero, G. Neustadt, María José Gil García, Magdalena Ugarte, Quero J, J. A. DelValle
المصدر: Journal of inherited metabolic disease. 5(2)
مصطلحات موضوعية: medicine.medical_specialty, Methylmalonyl-CoA Decarboxylase, Carboxy-Lyases, Hydroxybutyrates, chemistry.chemical_compound, Propionylglycine, Biotin, Internal medicine, Genetics, medicine, Humans, Citrates, Lactic Acid, Amino Acids, Pentanoic Acids, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Tiglylglycine, Food, Formulated, biology, Propionyl-CoA carboxylase deficiency, 3-Hydroxybutyric Acid, Infant, Newborn, Fibroblasts, medicine.disease, Enzyme assay, Pyruvate carboxylase, Ketoacidosis, Endocrinology, chemistry, Dietary treatment, biology.protein, Lactates, Female, Propionates
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c08b58500ebbfa7e8bc02885b081b0e5Test
https://pubmed.ncbi.nlm.nih.gov/6820422Test -
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المؤلفون: G.H. Draffan, D. Gompertz
المصدر: Clinica chimica acta; international journal of clinical chemistry. 37
مصطلحات موضوعية: Male, Chromatography, Gas, Stereochemistry, Metabolite, Clinical Biochemistry, Glycine, Urine, Mass spectrometry, Biochemistry, Mass Spectrometry, chemistry.chemical_compound, Valerates, Humans, Coenzyme A, Child, Amino Acid Metabolism, Inborn Errors, Tiglylglycine, Hydro-Lyases, Chromatography, Biochemistry (medical), General Medicine, Butyrates, chemistry, Mass spectrum, Chromatography, Thin Layer, Dietary Proteins, Derivative (chemistry), Conjugate, Diet Therapy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::767e1f53768960775006b2fa72d8a749Test
https://pubmed.ncbi.nlm.nih.gov/5022104Test