Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency
Froese, D. Sean, Huemer, Martina, Suormala, Terttu, Burda, Patricie, Coelho, David, Guéant, Jean-Louis, Landolt, Markus A., Kožich, Viktor, Fowler, Brian, Baumgartner, Matthias R.
Published in Human mutation (01.05.2016)
Published in Human mutation (01.05.2016)
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Myelotoxicity and kidney dysfunction related to the use of trimethoprim-sulfamethoxazole for the treatment of Pneumocystis jirovecii pneumonia: a case report of severe adverse events with a common drug
Mendes, Isabel Cristina Melo, Mamani, Roxana Flores, Coelho, David Richer Araujo, Pimentel, Clarisse
Published in Revista do Instituto de Medicina Tropical de São Paulo (01.01.2024)
Published in Revista do Instituto de Medicina Tropical de São Paulo (01.01.2024)
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Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
Coelho, David, Kim, Jaeseung C, Miousse, Isabelle R, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nürnberg, Peter, Thiele, Holger, Robenek, Horst, Höhne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A, Majewski, Jacek, Rosenblatt, David S, Fowler, Brian, Rutsch, Frank, Baumgartner, Matthias R
Published in Nature genetics (01.10.2012)
Published in Nature genetics (01.10.2012)
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Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1
Fettelschoss, Victoria, Burda, Patricie, Sagné, Corinne, Coelho, David, De Laet, Corinne, Lutz, Seraina, Suormala, Terttu, Fowler, Brian, Pietrancosta, Nicolas, Gasnier, Bruno, Bornhauser, Beat, Froese, D.Sean, Baumgartner, Matthias R.
Published in The Journal of biological chemistry (14.07.2017)
Published in The Journal of biological chemistry (14.07.2017)
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SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders
Ghemrawi, Rose, Arnold, Carole, Battaglia-Hsu, Shyue-Fang, Pourié, Grégory, Trinh, Isabelle, Bassila, Christine, Rashka, Charif, Wiedemann, Arnaud, Flayac, Justine, Robert, Aurélie, Dreumont, Natacha, Feillet, François, Guéant, Jean-Louis, Coelho, David
Published in Metabolism, clinical and experimental (01.12.2019)
Published in Metabolism, clinical and experimental (01.12.2019)
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Genetic animal models to decipher the pathogenic effects of vitamin B12 and folate deficiency
Peng, Lu, Dreumont, Natacha, Coelho, David, Guéant, Jean-Louis, Arnold, Carole
Published in Biochimie (01.07.2016)
Published in Biochimie (01.07.2016)
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Knowledge gaps and educational opportunities in congenital toxoplasmosis: A narrative review of Brazilian and global perspectives
Araujo Coelho, David Richer, Oliveira da Luz, Rogerio, Soares Melegario, Catiucia, Vieira, Willians Fernando, Bahia-Oliveira, Lilian Maria Garcia
Published in Tropical medicine and infectious disease (01.06.2024)
Published in Tropical medicine and infectious disease (01.06.2024)
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Guillain-Barré Syndrome and Encephalitis Following a Cytomegalovirus Infection in an Immunocompetent Adult: A Case Report
Araujo Coelho, David Richer, Melo Mendes, Isabel Cristina, Flores Mamani, Roxana, Oliveira da Luz, Rogerio, Martins de Oliveira, Ana Luiza, Pimentel, Clarisse
Published in The American journal of case reports (18.07.2024)
Published in The American journal of case reports (18.07.2024)
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Prolonged Anhepatic State as a Bridge to Retransplantation: A Challenging Case of a 35-Year-Old Male Liver Transplant Patient with a Temporary Portacaval Shunt
Araujo Coelho, David Richer, Oliveira da Luz, Rogerio, Teixeira Basto, Samanta, Tavares de Sousa, Claudia Cristina, Pereira da Silva, Henry, Martins Fernandes, Eduardo de Sousa, Brito-Azevedo, Anderson
Published in The American journal of case reports (27.12.2023)
Published in The American journal of case reports (27.12.2023)
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Dose-dependent effects of siRNA-mediated inhibition of SCAP on PCSK9, LDLR, and plasma lipids in mouse and rhesus monkey[S]
Jensen, Kristian K., Tadin-Strapps, Marija, Wang, Sheng-ping, Hubert, James, Kan, Yanqing, Ma, Yong, McLaren, David G., Previs, Stephen F., Herath, Kithsiri B., Mahsut, Ablatt, Liaw, Andy, Wang, Shubing, Stout, Steven J., Keohan, CarolAnn, Forrest, Gail, Coelho, David, Yendluri, Satya, Williams, Stephanie, Koser, Martin, Bartz, Steven, Akinsanya, Karen O., Pinto, Shirly
Published in Journal of lipid research (01.12.2016)
Published in Journal of lipid research (01.12.2016)
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Correction: A transgenic mice model of retinopathy of cblG‑type inherited disorder of one‑carbon metabolism highlights epigenome‑wide alterations related to cone photoreceptor cells development and retinal metabolism
Matmat, Karim, Conart, Jean-Baptiste, Graindorge, Paul-Henri, El Kouche, Sandra, Hassan, Ziad, Siblini, Youssef, Umoret, Rémy, Safar, Ramia, Baspinar, Okan, Robert, Aurélie, Alberto, Jean-Marc, Oussalah, Abderrahim, Hergalant, Sébastien, Coelho, David, Guéant, Jean-Louis, Guéant-Rodriguez, Rosa-Maria
Published in Clinical epigenetics (08.02.2024)
Published in Clinical epigenetics (08.02.2024)
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Journal Article
Life-Threatening Electrical Storm Following Liver Transplantation: A Case Report
Araujo Coelho, David Richer, Oliveira da Luz, Rogerio, Teixeira Basto, Samanta, De Barros Wanderley Júnior, Mauro Rogério, Tavares de Sousa, Claudia Cristina, Fagundes de Carvalho, Elke Reis, Martins Fernandes, Eduardo de Sousa, Brito-Azevedo, Anderson
Published in The American journal of case reports (05.01.2024)
Published in The American journal of case reports (05.01.2024)
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Journal Article
A transgenic mice model of retinopathy of cblG-type inherited disorder of one-carbon metabolism highlights epigenome-wide alterations related to cone photoreceptor cells development and retinal metabolism
Matmat, Karim, Conart, Jean-Baptiste, Graindorge, Paul-Henri, El Kouche, Sandra, Hassan, Ziad, Siblini, Youssef, Umoret, Rémy, Safar, Ramia, Baspinar, Okan, Robert, Aurélie, Alberto, Jean-Marc, Oussalah, Abderrahim, Coelho, David, Guéant, Jean-Louis, Guéant-Rodriguez, Rosa-Maria
Published in Clinical epigenetics (05.10.2023)
Published in Clinical epigenetics (05.10.2023)
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Cognitive Impairment Is Associated with AMPAR Glutamatergic Dysfunction in a Mouse Model of Neuronal Methionine Synthase Deficiency
Hassan, Ziad, Coelho, David, Bossenmeyer-Pourié, Carine, Matmat, Karim, Arnold, Carole, Savladori, Aurélie, Alberto, Jean-Marc, Umoret, Rémy, Guéant, Jean-Louis, Pourié, Grégory
Published in Cells (Basel, Switzerland) (27.04.2023)
Published in Cells (Basel, Switzerland) (27.04.2023)
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Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis
Wiedemann, Arnaud, Chery, Céline, Coelho, David, Flayac, Justine, Gueguen, Naïg, Desquiret-Dumas, Valérie, Feillet, François, Lavigne, Christian, Neau, Jean-Philippe, Fowler, Brian, Baumgartner, Matthias R, Reynier, Pascal, Guéant, Jean-Louis, Oussalah, Abderrahim
Published in Journal of human genetics (01.01.2020)
Published in Journal of human genetics (01.01.2020)
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