खोज परिणाम - Aleix Navarro‐Sastre
- प्रदर्शित 1 - 2 परिणाम 2
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1
Mutations in the lipoyltransferase<i>LIPT1</i>gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes द्वारा Frederic Tort, Xènia Ferrer-Cortés, Marta Thió, Aleix Navarro‐Sastre, Leslie Matalonga, Ester Quintana, Núria Bujan, Ángela Arias, Judit García‐Villoria, Cécile Acquaviva, Christine Vianey‐Saban, Rafael Artuch, Àngels García‐Cazorla, Paz Briones, Antònia Ribes
प्रकाशित 2013Artigo -
2
Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes द्वारा Raquel Montero, Manuela Grazina, Ester López‐Gallardo, Julio Montoya, Paz Briones, Aleix Navarro‐Sastre, John M. Land, Iain P. Hargreaves, Rafael Artuch, María del Mar O’Callaghan, Cristina Jou, C. Jimenez‐Mallebrera, Núria Bujan, Mercè Pineda, Àngels García‐Cazorla, A. Nascimento, Belén Pérez‐Dueñas, Eduardo Ruiz‐Pesini, Carl Fratter, Leonardo Salviati, Marta Simões, Cândida Mendes, Maria João Santos, Luísa Diogo, Paula Garcia, Plácido Navas
प्रकाशित 2013Artigo
खोज साधन:
संबंधित विषय
Biology
Gene
Genetics
Mitochondrial DNA
Mitochondrial disease
Mitochondrion
Antioxidant
Biochemistry
Coenzyme Q – cytochrome c reductase
Coenzyme Q10
Complementation
Cytochrome c
Dna testing
Endocrinology
Enzyme
Gastroenterology
Glycine cleavage system
Inborn error of metabolism
Internal medicine
Kearns–Sayre syndrome
Lactic acidosis
Lipoic acid
Medicine
Missense mutation
Mitochondrial myopathy
Mutation
Pathophysiology
Phenotype
Pyruvate dehydrogenase complex
Respiratory chain