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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cf2f557ef34915634eeb8e2ec3a09faTest
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