المؤلفون: Petra J. W. Pouwels, F. Athanasiadou-Piperopoulou, Richard J. Rodenburg, Hans Scheffer, A. Ververi, M.S. van der Knaap, Dimitrios I. Zafeiriou, L.P.W.J. van den Heuvel

المساهمون: Physics and medical technology, Pediatric surgery, Neuroscience Campus Amsterdam 2008, Other departments

المصدر: Neuropediatrics, 39(3), 172-175. Hippokrates Verlag GmbH
Neuropediatrics, 39, 3, pp. 172-5
Zafeiriou, D I, Rodenburg, R J T, Scheffer, H, van den Heuvel, L P, Pouwels, P J W, Ververi, A & van der Knaap, M S 2008, ' MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course ', Neuropediatrics, vol. 39, no. 3, pp. 172-175 . https://doi.org/10.1055/s-0028-1093336Test
Neuropediatrics, 39, 172-5

مصطلحات موضوعية: In vivo magnetic resonance spectroscopy, Heterozygote, Pathology, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Mitochondrial Diseases, Energy and redox metabolism [NCMLS 4], NDUFV1, Corpus callosum, Compound heterozygosity, Genomic disorders and inherited multi-system disorders [IGMD 3], Leukoencephalopathy, White matter, SDG 3 - Good Health and Well-being, Translational research [ONCOL 3], Spastic diplegia, medicine, Humans, Child, Electron Transport Complex I, medicine.diagnostic_test, Brain Diseases, Metabolic, business.industry, NADH Dehydrogenase, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, Mitochondrial medicine [IGMD 8], medicine.anatomical_structure, Genetic defects of metabolism [UMCN 5.1], Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Cellular energy metabolism [UMCN 5.3], business, Functional Neurogenomics [DCN 2]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1479a1952fbb560cfc49bfb87f016fc5Test
https://doi.org/10.1055/s-0028-1093336Test

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

المؤلفون: Seerp Baarsma, J.E.E. Keunen, M. Sotodeh, M.J. van Schooneveld, Grazyna Adamus, Dion Paridaens

المصدر: Klinische Monatsblätter für Augenheilkunde, 222, 910-4
Klinische Monatsblätter für Augenheilkunde, 222, 11, pp. 910-4

مصطلحات موضوعية: Male, Uveal Neoplasms, Pathology, medicine.medical_specialty, Skin Neoplasms, genetic structures, Paraneoplastic Syndromes, Posterior pole, Fundus (eye), Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, medicine, Neurosensory disorders [UMCN 3.3], Humans, Melanoma, medicine.diagnostic_test, business.industry, Retinal Degeneration, Retinal, Middle Aged, Fluorescein angiography, medicine.disease, eye diseases, Ophthalmology, chemistry, Evaluation of complex medical interventions [NCEBP 2], Immunohistochemistry, Female, sense organs, business, Electroretinography, Retinopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f4008667c4f097b29dd157c369ea8d2Test
https://doi.org/10.1055/s-2005-858840Test

المؤلفون: Richard J. Rodenburg, Thomas Hoehn, Jan A.M. Smeitink, Felix Distelmaier, L.P.W.J. van den Heuvel, Klaus Lohmeier, Ertan Mayatepek

المصدر: Neuropediatrics, 38, 148-50
Neuropediatrics, 38, 3, pp. 148-50

مصطلحات موضوعية: Male, medicine.medical_specialty, Hypertensive encephalopathy, Mitochondrial Diseases, Energy and redox metabolism [NCMLS 4], Mitochondrial disease, Blood Pressure, Mitochondrion, Genomic disorders and inherited multi-system disorders [IGMD 3], Metabolism, transport and motion [NCMLS 2], Translational research [ONCOL 3], Hypertensive Encephalopathy, Internal medicine, Humans, Medicine, Antihypertensive Agents, Collapse (medical), Cerebral Cortex, Electron Transport Complex I, business.industry, General Medicine, medicine.disease, Hypertensive crisis, Mitochondrial medicine [IGMD 8], Blood pressure, Endocrinology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cardiology, Neurology (clinical), Presentation (obstetrics), medicine.symptom, Cellular energy metabolism [UMCN 5.3], business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45927dd9b710ed4576bbfb9675e92d88Test
https://doi.org/10.1055/s-2007-985903Test