المؤلفون: Christian Fottner, Stefanie Sollfrank, Mursal Ghiasi, Anke Adenaeuer, Thomas Musholt, Arno Schad, Matthias Miederer, Simin Schadmand-Fischer, Matthias M. Weber, Karl J. Lackner, Heidi Rossmann

المصدر: Cancers, Vol 14, Iss 7, p 1798 (2022)

مصطلحات موضوعية: insulinomatosis, insulinoma, hyperinsulinemic hypoglycemia, MAFA, phosphorylation defect, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6694/14/7/1798; https://doaj.org/toc/2072-6694

URL الوصول: https://doaj.org/article/12a0b66712e6413ea9dd62ec0e0c55bf

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المؤلفون: O'Byrne, James J., Tarailo-Graovac, Maja, Ghani, Aisha, Champion, Michael, Deshpande, Charu, Dursun, Ali, Ozgul, Riza K., Freisinger, Peter, Garber, Ian, Haack, Tobias B., Horvath, Rita, Barić, Ivo, Husain, Ralf A., Kluijtmans, Leo A.J., Kotzaeridou, Urania, Morris, Andrew A., Ross, Colin J., Santra, Saikat, Smeitink, Jan, Tarnopolsky, Mark, Wortmann, Saskia B., Mayr, Johannes A., Brunner-Krainz, Michaela, Prokisch, Holger, Wasserman, Wyeth W., Wevers, Ron A., Engelke, Udo F., Rodenburg, Richard J., Ting, Teck Wah, McFarland, Robert, Taylor, Robert W., Salvarinova, Ramona, van Karnebeek, Clara D.M.

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Cellular & Molecular Mechanisms, Paediatric Metabolic Diseases, Çocuk Sağlığı ve Hastalıkları

المصدر: Molecular Genetics and Metabolism
Molecular genetics and metabolism, 123(1), 28-42. Academic Press Inc.

مصطلحات موضوعية: Male, Mitochondrial Diseases, HCM, hypertrophic cardiomyopathy, Adolescent, Cardiomyopathy, Biopsy, OXPHOS, oxidative phosphorylation, Article, Oxidative Phosphorylation, Ketogenic diet, Lactic acidosis, Mitochondrial disease, Mitochondrial translation optimization 1, Oxidative Phosphorylation Defec, Humans, Child, Frameshift Mutation, ID, intellectual disability, GDD, global developmental delay, Infant, Newborn, Brain, Infant, RNA-Binding Proteins, Q-TOF, quadrupole time-of-flight, Cardiomyopathy, Hypertrophic, Oxidative Phosphorylation Defect, Child, Preschool, Hepatic Encephalopathy, MTO1, Mitochondrial tRNA Translation Optimization 1, Female, Carrier Proteins, MRI, magnetic resonance imaging, WES, whole exome sequencing, Metabolism, Inborn Errors

وصف الملف: application/pdf; text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d15361d9f0ba1ff8b22e3d3d2d6a717c
https://www.repository.cam.ac.uk/handle/1810/290338

المؤلفون: Hasan Koc, Marco Friscia, Emine C. Koc, M. Allison Wolf, Ebru Haciosmanoglu, Antonio Cortese, Luigi Califano, Pier Paolo Claudio

المساهمون: HACIOSMANOĞLU, EBRU

مصطلحات موضوعية: Male, Mitochondrial DNA, Mitochondrial ribosomal proteins, Mitochondrial translation, SDHB, Protein subunit, Blotting, Western, Biology, Mitochondrial protein synthesis, Oxidative Phosphorylation, Head and neck cancer, MRPL11, Oxidative phosphorylation defect, Squamous cell carcinoma, Mitochondrial Proteins, Ribosomal protein, medicine, Humans, Molecular Biology, Aged, Genetics, Gene Expression Profiling, Cell Biology, Middle Aged, medicine.disease, Head and neck squamous-cell carcinoma, Primary tumor, Mitochondria, Head and Neck Neoplasms, Protein Biosynthesis, DNAJA3, Cancer research, Carcinoma, Squamous Cell, Molecular Medicine, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87935d73ba23bf6173115465219b98d3
http://hdl.handle.net/20.500.12645/25171

المؤلفون: Av. Vanlander, Jorens, P. G., Joél Smet, Boél De Paepe, Verbrugghe, W., Den Eynden, G. G., Meire, F., Pauwels, P., Aa, N., Sara Seneca, Willy Lissens, Okun, J. G., Rudy Van Coster

المساهمون: Department of Embryology and Genetics, Reproduction and Genetics

المصدر: Vrije Universiteit Brussel

مصطلحات موضوعية: Leber hereditary optic neuropathy (LHON), Inborn oxidative phosphorylation defect, PRIS (propofol infusion syndrome), OXPHOS

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b1dbceaa3ba4c05e9900861943727058
https://biblio.vub.ac.be/vubir/inborn-oxidative-phosphorylation-defect-as-risk-factor-for-propofol-infusionsyndrome(f53fd0f9-6b5f-4df7-990f-8021d46de0f3).html

المؤلفون: De Paepe, Boél, Smet, Joél, Leroy, Jules, Seneca, Sara, Van Maldergem, L., Scalais, E., Lissens, Willy, De Meirleir, Linda, Van Coster, Rudy

المساهمون: Department of Embryology and Genetics, Pediatrics

مصطلحات موضوعية: immunocytochemical staining, oxidative phosphorylation defect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3848::eba964423ea891117b70c722ce0523cc
https://biblio.vub.ac.be/vubir/immunocytochemical-staining-of-cultured-fibroblasts-is-a-valuable-first-line-screening-test-for-oxidative-phosphorylation-defects(6f1fb360-84d5-4d5a-b45b-3e42e6ce220d).html

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المؤلفون: O'Byrne, James J, Tarailo-Graovac, Maja, Ghani, Aisha, Champion, Michael, Deshpande, Charu, Dursun, Ali, Ozgul, Riza K, Freisinger, Peter, Garber, Ian, Haack, Tobias B, Horvath, Rita, Barić, Ivo, Husain, Ralf A, Kluijtmans, Leo AJ, Kotzaeridou, Urania, Morris, Andrew A, Ross, Colin J, Santra, Saikat, Smeitink, Jan, Tarnopolsky, Mark, Wortmann, Saskia B, Mayr, Johannes A, Brunner-Krainz, Michaela, Prokisch, Holger, Wasserman, Wyeth W, Wevers, Ron A, Engelke, Udo F, Rodenburg, Richard J, Ting, Teck Wah, McFarland, Robert, Taylor, Robert W, Salvarinova, Ramona, Van Karnebeek, Clara DM

مصطلحات موضوعية: Male, Mitochondrial Diseases, Adolescent, Cardiomyopathy, Lactic acidosis, Biopsy, Infant, Newborn, Brain, Infant, RNA-Binding Proteins, Ketogenic diet, Cardiomyopathy, Hypertrophic, Mitochondrial disease, Oxidative Phosphorylation, 3. Good health, Oxidative Phosphorylation Defect, Child, Preschool, Hepatic Encephalopathy, Humans, Female, Mitochondrial translation optimization 1, Carrier Proteins, Child, Frameshift Mutation, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c13e115b73b72511ca32e7be24c53581