المؤلفون: Jennifer Bennett, Marina Kerr, Steven C. Greenway, Marisa W. Friederich, Johan L.K. Van Hove, Dustin Hittel, Aneal Khan

المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100616- (2020)

مصطلحات موضوعية: MTFMT, Dichloroacetate, Congenital lactic acidosis, Mitochondrial disorder, Cardiomyopathy, Hutterite, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920300628; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/7e01c5a3704b4c5cb0f2b7b298dac361

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المؤلفون: Irene Bravo-Alonso, Rosa Navarrete, Ana Isabel Vega, Pedro Ruíz-Sala, María Teresa García Silva, Elena Martín-Hernández, Pilar Quijada-Fraile, Amaya Belanger-Quintana, Sinziana Stanescu, María Bueno, Isidro Vitoria, Laura Toledo, María Luz Couce, Inmaculada García-Jiménez, Ricardo Ramos-Ruiz, Miguel Ángel Martín, Lourdes R. Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Begoña Merinero, Belén Pérez, Pilar Rodríguez-Pombo

المصدر: Journal of Clinical Medicine, Vol 8, Iss 11, p 1811 (2019)

مصطلحات موضوعية: congenital lactic acidosis, mitochondrial dysfunction, metabolomics datasets, clinical-exome sequencing, rna analysis, antisense therapy for mitochondrial disorders, healthcare, mitochondrial morphology, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/8/11/1811; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/e11470d8204842e49f979ca579a87c11

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المؤلفون: Ammini, Chandramohan V.^Aff1, Stacpoole, Peter W.^Aff2

المساهمون: Gribble, G., editor

المصدر: Natural Production of Organohalogen Compounds. 3 / 3P:215-234

المؤلفون: Magdalena Ugarte, Elena Martín-Hernández, Belén Pérez, Amaya Belanger-Quintana, Lourdes R. Desviat, Inmaculada García-Jiménez, Isidro Vitoria, Ricardo Ramos-Ruiz, Rosa Navarrete, Celia Pérez-Cerdá, Pilar Quijada-Fraile, María A. Bueno, Laura Toledo, María Teresa García Silva, Sinziana Stanescu, Ana I. Vega, Begoña Merinero, Pilar Rodríguez-Pombo, Irene Bravo-Alonso, Pedro Ruiz-Sala, Miguel Martín, María L. Couce

المساهمون: Fundación Isabel Gemio, Fundación 'la Caixa', European Commission, Comunidad de Madrid, Ministerio de Economía y Competitividad (España), UAM. Departamento de Biología Molecular

المصدر: Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 8, Iss 11, p 1811 (2019)
Journal of Clinical Medicine; Volume 8; Issue 11; Pages: 1811
Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of clinical medicine
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

مصطلحات موضوعية: Mitochondrial DNA, Antisense therapy for mitochondrial disorders, Clinical-exome sequencing, Congenital lactic acidosis, Healthcare, Metabolomics datasets, Mitochondrial dysfunction, Mitochondrial morphology, RNA analysis, metabolomics datasets, government.form_of_government, congenital lactic acidosis, mitochondrial dysfunction, clinical-exome sequencing, antisense therapy for mitochondrial disorders, healthcare, mitochondrial morphology, lcsh:Medicine, Computational biology, Genetic analysis, DNA sequencing, Article, 03 medical and health sciences, Medicine, Allele, Gene, Exome sequencing, 030304 developmental biology, Antisense therapy, 0303 health sciences, business.industry, 030305 genetics & heredity, lcsh:R, General Medicine, Biología y Biomedicina / Biología, government, business, RNA analysis, antisense therapy for mitochondrial disorders, clinical-exome sequencing, congenital lactic acidosis, healthcare, metabolomics datasets, mitochondrial dysfunction, mitochondrial morphology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83f0e2dd464d6604cfbbe328065583bb
https://pubmed.ncbi.nlm.nih.gov/31683770

المؤلفون: Shulin Zhang, George Grahame, Stacey Tarrant, Charles L. Hoppel, Ann M. Bergin, Douglas S. Kerr, Jirair K. Bedoyan, Suzanne D. DeBrosse, Ha Kyung Shin, Leah Hecht, Didem Demirbas, Edward Yang, Gerard T. Berry

المصدر: JIMD Reports
JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)

مصطلحات موضوعية: lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Case Report, Dehydrogenase, Case Reports, macromolecular substances, Pyruvate dehydrogenase phosphatase, Congenital lactic acidosis, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Biochemistry, Genetics and Molecular Biology (miscellaneous), Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Internal Medicine, medicine, branched‐chain 2‐ketoacid dehydrogenase, 030304 developmental biology, Alanine, 0303 health sciences, lcsh:RC648-665, Chemistry, pyruvate dehydrogenase phosphatase deficiency, PDP1, hemic and immune systems, pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase complex, medicine.disease, Molecular biology, 3. Good health, developmental delay, lcsh:Genetics, lactic acidosis, Lactic acidosis, 030217 neurology & neurosurgery, Ketogenic diet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81f937cc742f8ecb3aa4ecac70175c05
https://doi.org/10.1002/jmd2.12054

المؤلفون: Radulescu, Dan, Radulescu, Liliana, Chis, Bogdan, Grigorescu-Sido, Paula, Drugan, Cristina, Zimmerman, Anca, Popp, R. A., Al-Khzouz, Camelia, Nascu, Ioana, Lazea, Cecilia, Lazar, Calin, Bucerzan, Simona, Zimmermann, Anca, Crisan, Mirela, Popp, Radu, Stan, Adina, Muresanu, Fior Dafin, Dumitrascu, Dan, Luca, Alina-Costina, Holoc, Andreea-Simona, Braha, Elena, Crişan, Mirela, Kiss, Eva, Curt, Ana, Almási, Zsuzsa, Neagu, Paula, Miclea, Diana, Chiş, Ana Florica, Man, Milena Adina, Pop, Monica, Culcitchi, Carmen, Asavoaie, Carmen, Fodor, Daniela, Popovici, Elvis, Blaga, Teodora Surdea, Surdea-Blaga, Teodora, David, Liliana, Dumitrascu, Dan L., Vinţan, Mihaela, Mager, Monica, Orza, Diana, Dubau, Mihaela, Babici, Remus, Bodea, Laura, Daraban, Nicoleta, Maris, Alexandra, Militaru, Mihai, Oana, Loredana, Vlonga, Diana Păcurar, Man, Sorin, Lazăr, Călin, Aldea, Cornel, Miclea, D., Al-Khzouz, C., Bucerzan, S., Zimmermann, A., Cret, V., Farcas, M., Crisan, M., Stefan, D., Grigorescu-Sido, P., Cătană, Andreea, Cadariu, Patriciu Achimaş, Martin, Daniela, Orodan, Andrada, Popp, Radu Anghel, Militaru, Mariela, Dronca, Eleonora, Militaru, Mariela Sanda, Iacob, Daniela, Corbu, Andrei, Cosma, Dan, Blaga, Ligia, Vulturar, Romana, Abrudan, Gabriela, Todea, Bogdana, Ciubotariu, Adriana, Muresan, Marta, Ilieş, Roxana Flavia, Bogdan, Felicia Maria, Bolba, Gabriela Morar, Militaru, Diana

المصدر: Medicine and Pharmacy Reports

مصطلحات موضوعية: organic acidemia, Abstracts, obesity, treatment, 11-β-hydroxylase, hyperammonemia, diagnosis, monogenic, congenital lactic acidosis, 21-hydroxylase deficiency, polygenic, syndromic, Gaucher disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::7c012885da628a184cedb30c68b40716
http://europepmc.org/articles/PMC7010335

المؤلفون: Tonya, Moss, Melanie, May, Heather, Flanagan-Steet, Raymond, Caylor, Yong-Hui, Jiang, Marie, McDonald, Michael, Friez, Allyn, McConkie-Rosell, Richard, Steet

المصدر: Cold Spring Harbor Molecular Case Studies

مصطلحات موضوعية: Adult, Male, Adolescent, Cerebellar Ataxia, Mutation, Missense, Apoptosis Inducing Factor, Mitochondrial Myopathies, Apoptosis, infantile encephalopathy, lethal infantile mitochondrial myopathy, Mitochondria, Pedigree, Phenotype, Genes, X-Linked, Mitochondrial Encephalomyopathies, Humans, congenital lactic acidosis, Ataxia, Female, Acidosis, Child, mitochondrial encephalopathy, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e0fe0c715eb0d52771060670f78e6a18
https://pubmed.ncbi.nlm.nih.gov/34117073

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