Resultados da pesquisa - Rahman, Shamima

The utility of phenomics in diagnosis of inherited metabolic disorders Por Rahman, Joyeeta, Rahman, Shamima

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Ototoxicity caused by aminoglycosides Por Bitner-Glindzicz, Maria, Rahman, Shamima

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POLG-related disorders and their neurological manifestations Por Rahman, Shamima, Copeland, William C.

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176th ENMC International Workshop: Diagnosis and treatment of Coenzyme Q(10) deficiency Por Rahman, Shamima, Clarke, Catherine F, Hirano, Michio

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Leigh map: A novel computational diagnostic resource for mitochondrial disease Por Rahman, Joyeeta, Noronha, Alberto, Thiele, Ines, Rahman, Shamima

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Gentamicin, genetic variation and deafness in preterm children Por Bitner-Glindzicz, Maria, Rahman, Shamima, Chant, Kathy, Marlow, Neil

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Systems Biology Approaches Toward Understanding Primary Mitochondrial Diseases Por Maldonado, Elaina M., Taha, Fatma, Rahman, Joyeeta, Rahman, Shamima

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Moving towards clinical trials for mitochondrial diseases Por Pitceathly, Robert D.S., Keshavan, Nandaki, Rahman, Joyeeta, Rahman, Shamima

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An International Classification of Inherited Metabolic Disorders (ICIMD) Por Ferreira, Carlos R., Rahman, Shamima, Keller, Markus, Zschocke, Johannes

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Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) Por Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena

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Near infrared spectroscopy with a vascular occlusion test as a biomarker in children with mitochondrial and other neuro-genetic disorders Por Raman, Sainath, Chentouf, Latifa, DeVile, Catherine, Peters, Mark J., Rahman, Shamima

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Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency Por Hay, Eleanor, Wilson, Louise C., Hoskins, Bethan, Samuels, Martin, Munot, Pinki, Rahman, Shamima

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A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations Por Shahni, Rojeen, Wedatilake, Yehani, Cleary, Maureen A, Lindley, Keith J, Sibson, Keith R, Rahman, Shamima

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Oxidative phosphorylation gene expression falls at onset and throughout the development of meningococcal sepsis-induced multi-organ failure in children Por Raman, Sainath, Klein, Nigel, Kwan, Antonia, Hubank, Mike, Rahman, Shamima, Rashid, Asrar, Peters, Mark J.

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Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome Por He, Cuiwen H., Black, Dylan S., Allan, Christopher M., Meunier, Brigitte, Rahman, Shamima, Clarke, Catherine F.

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Treatable Leigh-like encephalopathy presenting in adolescence Por Fassone, Elisa, Wedatilake, Yehani, DeVile, Catherine J, Chong, W Kling, Carr, Lucinda J, Rahman, Shamima

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Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy Por Wedatilake, Yehani, Plagnol, Vincent, Anderson, Glenn, Paine, Simon M. L., Clayton, Peter T., Jacques, Thomas S., Rahman, Shamima

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Mitochondrial m.1584A 12S m(6)(2)A rRNA methylation in families with m.1555A>G associated hearing loss Por O'Sullivan, Mary, Rutland, Paul, Lucas, Deirdre, Ashton, Emma, Hendricks, Sebastian, Rahman, Shamima, Bitner-Glindzicz, Maria

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The Combination of Mitragynine and Morphine Prevents the Development of Morphine Tolerance in Mice Por Fakurazi, Sharida, Rahman, Shamima Abdul, Hidayat, Mohamad Taufik, Ithnin, Hairuszah, Moklas, Mohamad Aris Mohd, Arulselvan, Palanisamy

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Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion Por Elpeleg, Orly, Miller, Chaya, Hershkovitz, Eli, Bitner-Glindzicz, Maria, Bondi-Rubinstein, Gili, Rahman, Shamima, Pagnamenta, Alistair, Eshhar, Sharon, Saada, Ann

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