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المؤلفون: María Martinez, Verónica Bindi, Carolina Crespo, Luisa Bay, Hernán Eiroa
المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPTمصطلحات موضوعية: medicine.medical_specialty, Medicine (General), Complications, Endocrinology, Diabetes and Metabolism, growth, Hypoglycemia, Carbohydrate metabolism, Gastroenterology, Nephropathy, chemistry.chemical_compound, R5-920, Internal medicine, Lactic acidemia, medicine, Genetics (clinical), Glycogen storage disease I, Hypertriglyceridemia, Glycogen storage disease type I, Triglyceride, business.industry, metabolic control, medicine.disease, chemistry, Metabolic control analysis, Pediatrics, Perinatology and Child Health, Cohort, nephropathy, business, liver adenoma
وصف الملف: text/html
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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100307&tlng=enTest -
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المؤلفون: H.F.M. Busch, Jan M. Bogaard, I. E. M. Luyt-Houwen, Henk D. Bakker, Hans R. Scholte, L. Kuyt
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1271(1):75-83
مصطلحات موضوعية: Adult, Male, Adolescent, Biopsy, Myopathy, Riboflavin, Encephalomyopathy, Oxidative phosphorylation, Biology, Mitochondrion, Electron Transport Complex IV, Consanguinity, chemistry.chemical_compound, Sarcolemma, Oxidoreductase, Carnitine, Lactic acidemia, NAD(P)H Dehydrogenase (Quinone), Cardiolipin, medicine, Humans, Cytochrome c oxidase, Child, Muscle, Skeletal, Molecular Biology, Fatigue, chemistry.chemical_classification, Succinate dehydrogenase, Complex I deficiency, Mitochondria, Muscle, Pedigree, Succinate Dehydrogenase, chemistry, Biochemistry, biology.protein, Succinate Cytochrome c Oxidoreductase, Molecular Medicine, Female, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6d7af54916e80fa2d19ff7e65c0b739Test
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المؤلفون: Ulrike Steuerwald, René Santer, Carlo Dionisi-Vici, Rosalba Carrozzo, Frodi Joensen, Leo A. J. Kluijtmans, Eva Morava, Ron A. Wevers
المصدر: Mitochondrion, 9, 438-42
Mitochondrion, 9, 6, pp. 438-42مصطلحات موضوعية: Male, medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Adolescent, Hearing loss, SUCLA2, Hearing Loss, Sensorineural, Methylmalonic acid, Biology, Gastroenterology, Models, Biological, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Young Adult, Internal medicine, Succinate-CoA Ligases, medicine, Perception and Action [DCN 1], Valerates, Humans, Child, Molecular Biology, Genetics, Dystonia, Muscle biopsy, Splice site mutation, medicine.diagnostic_test, Intermittent lactic acidemia, Homozygote, Infant, Cell Biology, medicine.disease, Hypotonia, Mitochondrial medicine [IGMD 8], chemistry, Child, Preschool, Lactates, Molecular Medicine, medicine.symptom, Functional Neurogenomics [DCN 2], Biomarkers, Metabolic Networks and Pathways, Methylmalonic Acid
وصف الملف: application/pdf
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http://hdl.handle.net/2066/80876Test -
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المؤلفون: Yoshihiro Horii, Michinori Ito, Seiko Kitamura, Takahiko Saijo, Ichiro Yokota, Etsuo Naito, Yasuhiro Kuroda, Yukiko Ogawa, Junko Matsuda, Eiko Takada
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. (1):79-84
مصطلحات موضوعية: Male, Pyruvate decarboxylation, Pyruvate dehydrogenase complex deficiency, Pyruvate Dehydrogenase Complex, Biology, chemistry.chemical_compound, Lactic acidemia, Thiamine treatment, medicine, Humans, Point Mutation, Lactic Acid, Lymphocytes, Thiamine, Child, Pyruvate Dehydrogenase Complex Deficiency Disease, Molecular Biology, Cells, Cultured, Binding Sites, Infant, food and beverages, Exons, Pyruvate dehydrogenase complex, medicine.disease, Molecular biology, Pyruvate dehydrogenase deficiency, chemistry, TPP binding region, Molecular Medicine, E1α subunit, Thiamine pyrophosphate, Pyruvate Decarboxylase, Pyruvate decarboxylase, Thiamine pyrophosphate binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c3e3947c09e5d66d273e3315f213dc3Test