Výsledky vyhledávání - Marta Molero‐Luis
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Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors Autor Juan Darío Ortigoza‐Escobar, Majid Alfadhel, Marta Molero‐Luis, Niklas Darín, Ronen Spiegel, I.F.M. de Coo, Mike Gerards, Robert W. Taylor, Rafael Artuch, Marwan Nashabat, Pilar Rodríguez‐Pombo, Brahim Tabarki, Belén Pérez‐Dueñas
Vydáno 2017Artigo -
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Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome Autor Juan Darío Ortigoza‐Escobar, Marta Molero‐Luis, Ángela Arias, Alfonso Oyarzábal, Niklas Darín, Mercedes Serrano, Àngels García‐Cazorla, Mireia Tondo, María Isabel Hernández, Judit García‐Villoria, Mercedes Casado, Laura Gort, Johannes A. Mayr, Pilar Rodríguez‐Pombo, Antònia Ribes, Rafael Artuch, Belén Pérez‐Dueñas
Vydáno 2015Artigo -
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Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases Autor Marta Molero‐Luis, Dídac Casas‐Alba, Gabriela Orellana, Aída Ormazábal, Cristina Sierra, Clara Oliva, Anna Valls, Jesús Velasco, Cristian Launes, Daniel Cuadras, Belén Pérez‐Dueñas, Iolanda Jordán, Francisco José Cambra Lasaosa, Juan Darío Ortigoza‐Escobar, Carmen Muñoz‐Almagro, Àngels García‐Cazorla, Thaís Armangué, Rafael Artuch
Vydáno 2020Artigo -
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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency Autor Tessa Wassenberg, Marta Molero‐Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau, Ángeles García‐Cazorla, Rafael Artuch, Roser Pons, Toni S. Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L. Pearl, Wang‐Tso Lee, Manju A. Kurian, Simon Heales, Lisa Flint, Marcel M. Verbeek, Michèl A.A.P. Willemsen, Thomas Opladen
Vydáno 2017Revisão
Vyhledávací nástroje:
Související témata
Medicine
Internal medicine
Pediatrics
Cerebrospinal fluid
Pathology
Biochemistry
Biomarker
Dopamine
Endocrinology
Etiology
Intensive care medicine
Thiamine
Thiamine deficiency
Aromatic L-amino acid decarboxylase
Bacterial meningitis
Biology
Chemistry
Cofactor
Cohort
Disease
Dopaminergic
Dystonia
Encephalopathy
Enzyme
Excretion
Family medicine
Gastroenterology
Gluten free
Guideline
Homovanillic acid