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المؤلفون: A. Saunières, J. Camboulives, V. Paquis-Flucklinger, M. F. Monfort, Claude Desnuelle, B. Chabrol, H. Giudicelli, F. Pellissier
المصدر: European Journal of Pediatrics. 154:557-562
مصطلحات موضوعية: Mitochondrial DNA, medicine.medical_specialty, Dizygotic twin, Respiratory chain, Cytochrome-c Oxidase Deficiency, DNA, Mitochondrial, Fatal Outcome, Mitochondrial myopathy, Mitochondrial Encephalomyopathies, Internal medicine, Diseases in Twins, Twins, Dizygotic, Humans, Medicine, Cytochrome c oxidase, Muscle, Skeletal, Muscle biopsy, Respiratory distress, medicine.diagnostic_test, biology, business.industry, Brain, Infant, medicine.disease, Microscopy, Electron, Endocrinology, Biochemistry, Lactic acidosis, Pediatrics, Perinatology and Child Health, biology.protein, Muscle Hypotonia, Acidosis, Lactic, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a78bcec5d01f2314e1560f2a1c7eeb03Test
https://doi.org/10.1007/bf02074834Test -
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المؤلفون: Drago Bratkovic, Pascal Laforêt, Barry J. Byrne, William Lang, Robert D. Henderson, Claude Desnuelle, Richard J. Barohn, Mark Roberts, Jonathon LeBowitz, Tarekegn Hiwot, Bruce A. Barshop, Derralynn Hughes, Eugen Mengel
المصدر: Molecular Genetics and Metabolism. 111:S29
مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Late onset, Disease, medicine.disease, Biochemistry, Virology, Metachromatic leukodystrophy, Endocrinology, Genetics, medicine, Dementia, Juvenile, Age of onset, business, Molecular Biology, Developmental regression
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ef2eb916faf2e532fb4aa4ffd1b7c341Test
https://doi.org/10.1016/j.ymgme.2013.12.050Test -
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المؤلفون: Drago Bratkovic, Jonathan H. LeBowitz, Barry J. Byrne, Tarekegn Geberhiwot, Richard J. Barohn, Claude Desnuelle, Mark Roberts, William Lang, Eugen Mengel, Bruce A. Barshop, Pascal Laforêt, Derralynn Hughes
المصدر: Molecular Genetics and Metabolism. 108:S28
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, Genetics, Art, Molecular Biology, Biochemistry, Humanities, Virology, media_common, Queen (playing card)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6ad94391e656f0da2c4ff62b5d5988d1Test
https://doi.org/10.1016/j.ymgme.2012.11.048Test -
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المؤلفون: G. Kozak-Ribbens, Claude Desnuelle, Sylviane Confort-Gouny, D. Vanuxem, David Bendahan, Dominique Figarella-Branger, Jean Pouget, Patrick J. Cozzone, Jean-François Pellissier, Georges Serratrice
المصدر: Neurology. 42:1203-1203
مصطلحات موضوعية: Adult, Male, Mitochondrial encephalomyopathy, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Adolescent, Ubiquinone, Oxidative phosphorylation, Phosphocreatine, chemistry.chemical_compound, Muscular Diseases, Mitochondrial myopathy, Internal medicine, medicine, Humans, Glycolysis, Acidosis, Chemistry, Muscles, Phosphorus, medicine.disease, Mitochondria, Muscle, Endocrinology, Biochemistry, Coenzyme Q – cytochrome c reductase, Exercise Test, Neurology (clinical), medicine.symptom, Ventilatory threshold, Oxidation-Reduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17ce34c8ae8f8efa0f6c97bb3ee97fa1Test
https://doi.org/10.1212/wnl.42.6.1203Test -
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المؤلفون: Mark A. Birch-Machin, Laurence A. Bindoff, J.F. Pellissier, Brian A. C. Ackrell, Douglass M. Turnbull, Claude Desnuelle
المصدر: Biochemical and Biophysical Research Communications. 163:695-700
مصطلحات موضوعية: medicine.medical_specialty, Indoles, Adolescent, Skeletal muscle mitochondria, Blotting, Western, Encephalopathy, Biophysics, Respiratory chain, macromolecular substances, Biology, Mitochondrion, Biochemistry, Electron Transport, Electron Transport Complex III, Oxygen Consumption, Mitochondrial myopathy, Multienzyme Complexes, Internal medicine, NAD(P)H Dehydrogenase (Quinone), medicine, Humans, Quinone Reductases, Myopathy, Molecular Biology, Brain Diseases, Electron Transport Complex II, Neuromuscular Diseases, Cell Biology, Progressive muscle weakness, medicine.disease, Mitochondria, Muscle, Succinate Dehydrogenase, Endocrinology, Mitochondrial respiratory chain, Electrophoresis, Polyacrylamide Gel, Female, medicine.symptom, Oxidoreductases, Oligopeptides
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de8fa83bfee0cb064367ef9160ee5eafTest
https://doi.org/10.1016/0006-291xTest(89)92279-1 -
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المؤلفون: W. King Engel, Valerie Askanas, Claude Desnuelle
المصدر: Journal of Neurochemistry. 49:1133-1138
مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, chemistry.chemical_element, Biology, Calcium, Fibroblast growth factor, Biochemistry, Ion Channels, Membrane Potentials, Cellular and Molecular Neuroscience, Tissue culture, Epidermal growth factor, Internal medicine, medicine, Humans, Insulin, Binding site, Cells, Cultured, Calcium metabolism, Oxadiazoles, Epidermal Growth Factor, Calcium Radioisotopes, Muscles, Calcium Channel Blockers, Fibroblast Growth Factors, Endocrinology, chemistry, Potassium, Membrane channel, Isradipine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f16fce34529f485621135aa161f9892Test
https://doi.org/10.1111/j.1471-4159.1987.tb10003.xTest -
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المؤلفون: Loren D.M. Pena, Ans van der Ploeg, Alan Pestronki, Jean Pouget, Shafeeq Ladha, Claude Desnuelle, John Vissing, Kerry Culm-Merdek, Peter Young, Philip Van Damme, Jaya Trivedi, Pascal Laforêt, Gerard Short, Volker Straub, Beth L. Thurberg, Richard Baron, Ozlem Goker-Alpan, Benedikt Schoser, Eugen Mengel, Barry J. Byrne
المصدر: Publons
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Late onset, Enzyme replacement therapy, Disease, Biochemistry, Gastroenterology, Therapy naive, Endocrinology, Internal medicine, Genetics, medicine, Physical therapy, business, Molecular Biology, Alglucosidase alfa, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::529908d6a6c0f9892dbcacdb43dff257Test
https://publons.com/publon/30519251Test/