نتائج البحث - "Respiratory chain defects"

المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 36(11)

مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Neurology, Mitochondrial Diseases, Adolescent, Epilepsies, Myoclonic, Pilot Projects, Dermatology, DNA-Directed DNA Polymerase, medicine.disease_cause, DNA, Mitochondrial, Electron Transport, chemistry.chemical_compound, Adenosine Triphosphate, Dravet syndrome, Medicine, Humans, Child, Cells, Cultured, Neuroradiology, Aconitate Hydratase, Mutation, business.industry, General Medicine, Fibroblasts, medicine.disease, Cadherins, Protocadherins, DNA Polymerase gamma, Mitochondria, NAV1.1 Voltage-Gated Sodium Channel, Psychiatry and Mental health, chemistry, DNA polymerase gamma, Female, Neurology (clinical), Neurosurgery, Mitochondrial respiratory chain defects, business, DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfc4a7c4cba1c248cb08250e374bf197Test
https://pubmed.ncbi.nlm.nih.gov/26169758Test

9

Pyruvate carboxylase deficiency An underestimated cause of lactic acidosis

المؤلفون: Jean-Paul Bonnefont, Marlène Rio, P. de Lonlay, Dominique Chretien, Florence Habarou, Sophie Monnot, Valérie Barbier, L. Le Moyec, Nathalie Boddaert, Jean Bastin, Anaïs Brassier, Robert Barouki, Bernadette Chadefaux-Vekemans, Chris Ottolenghi

المساهمون: Toxicité environnementale, cibles thérapeutiques, signalisation cellulaire (T3S - UMR_S 1124), Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte [CHU Necker] (MaMEA Necker), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), CHU Necker - Enfants Malades [AP-HP], Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Service de radiologie pédiatrique [CHU Necker], Unité de biologie intégrative des adaptations à l'exercice (UBIAE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), HAL, Univ Évry

المصدر: Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2015, 2, pp.25-31. ⟨10.1016/j.ymgmr.2014.11.001⟩
Molecular Genetics and Metabolism, 2015, 2, pp.25-31. ⟨10.1016/j.ymgmr.2014.11.001⟩
Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 25-31 (2015)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: medicine.medical_specialty, Secondary mitochondrial respiratory chain, [SDV]Life Sciences [q-bio], Case Report, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Secondary mitochondrial respiratory chain defects, Internal medicine, Genetics, medicine, Citrate synthase, Biotinidase activity, Molecular Biology, lcsh:QH301-705.5, defects, 030304 developmental biology, 0303 health sciences, lcsh:R5-920, biology, Pyruvate carboxylase deficiency, Lactic acidosis, medicine.disease, 3. Good health, Pyruvate carboxylase, PC deficiency, [SDV] Life Sciences [q-bio], Gluconeogenesis, lcsh:Biology (General), biology.protein, Bezafibrate, Severe lactic acidosis, Oxoglutarate dehydrogenase complex, lcsh:Medicine (General), 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1228a55f54117f8fab7e2f125dfc793Test
https://hal-univ-evry.archives-ouvertes.fr/hal-02489932/documentTest

10

Neonatal Lactic Acidosis, Complex I/IV Deficiency, and Fetal Cerebral Disruption

المؤلفون: H.L.M. van Straaten, L.P.W.J. van den Heuvel, L S de Vries, Marinus Duran, Markus Schuelke, J.M.F. Trijbels, Dirk Troost, Peter G. Barth, J. P. van Tintelen, J.M. Rozemuller

المساهمون: Cardiovascular Centre (CVC), Other departments, ANS - Amsterdam Neuroscience, Pathology, Laboratory Genetic Metabolic Diseases, Paediatric Neurology, Human genetics

المصدر: Van Straaten, H L M, Van Tintelen, J P, Trijbels, J M F, Van Den Heuvel, L P, Troost, D, Rozemuller, J M, Duran, M, De Vries, L S, Schuelke, M & Barth, P G 2005, ' Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption ', Neuropediatrics, vol. 36, no. 3, pp. 193-199 . https://doi.org/10.1055/s-2005-865713Test
Neuropediatrics, 36, 3, pp. 193-9
Neuropediatrics, 36(3), 193-199. GEORG THIEME VERLAG KG
Neuropediatrics, 36, 193-9
Neuropediatrics, 36(3), 193-199. Hippokrates Verlag GmbH

مصطلحات موضوعية: Male, Microcephaly, FEATURES, Respiratory chain, Cytochrome-c Oxidase Deficiency, Fatal Outcome, neuronal heterotopia, Polymicrogyria, Medicine, microcephaly, Agenesis of the corpus callosum, Metabolic disorder, Brain, General Medicine, ACIDURIA, DEHYDROGENASE COMPLEX, corpus callosum agenesis, Mitochondrial medicine [IGMD 8], DISEASES, Lactic acidosis, Acidosis, Lactic, Female, RESPIRATORY-CHAIN, medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], leptomeningeal heterotopia, MITOCHONDRIAL MYOPATHIES, Genomic disorders and inherited multi-system disorders [IGMD 3], cerebral calcifications, Translational research [ONCOL 3], Internal medicine, Humans, ENZYME-ACTIVITIES, Electron Transport Complex I, business.industry, Corpus Callosum Agenesis, MUSCLE-TISSUE, Infant, Newborn, respiratory chain defects, medicine.disease, congenital infection, Neuronal migration disorder, Endocrinology, HYPOPLASIA, Pediatrics, Perinatology and Child Health, Neurology (clinical), ependymal cysts, NEUROPATHOLOGY, Cellular energy metabolism [UMCN 5.3], business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::888b197b7a18e0df27f19173534d59ebTest
https://doi.org/10.1055/s-2005-865713Test

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