Rafael Artuch
Instituto de Investigación de Enfermedades Raras(ES)Institut de Recerca Sant Joan de Déu
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Coenzyme Q10 studies and effects, Folate and B Vitamins Research, Amino Acid Enzymes and Metabolism
Most-Cited Works
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency(2017)227 cited
- → Coenzyme Q deficiency triggers mitochondria degradation by mitophagy(2009)192 cited
- → GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction(2016)173 cited
- → Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion(2005)158 cited
- → Total Homocysteine in Pediatric Patients(1997)147 cited
- → Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies