Jaume Campistol

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg et al. · Pediatric Research · 2006 · 266 citations · Full text

Nutrition, Metabolic Disorder, Pediatric Hematology +8

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

Raquel Montero, Dèlia Yubero, Joan Villarroya et al. · PLoS ONE · 2016 · 172 citations · Full text

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients

Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro et al. · Orphanet Journal of Rare Diseases · 2015 · 152 citations · Full text

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults

Eleni Panagiotakaki, Giuseppe Gobbi, Brian Neville et al. · Brain · 2010 · 142 citations · Full text

Neurological Disorder, Education, Cerebral Palsy +19

Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

Christiane Busquets, B. Merinero, Ernst Christensen et al. · Pediatric Research · 2000 · 132 citations · Full text

Aldehyde Dehydrogenase, Metabolic Disorder, Genetics +6