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Human Mutation|September 15, 2004
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiencyVito Iacobazzi, Federica Invernizzi, Silvia Baratta, et al.Medicina Clinica|November 7, 2009
[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene]Angela Sempere, Carmen Fons, Angela Arias, et al.Pediatric Research|September 9, 2005
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial diseaseCelia Perez-Cerda, Judit García-Villoria, Rob Ofman, et al.Molecular Genetics and Metabolism|May 28, 2013
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduriaFrederic Tort, María Teresa García-Silva, Xènia Ferrer-Cortès, et al.Journal of Inherited Metabolic Disease|November 27, 2012
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the diseaseXènia Ferrer-Cortès, Aida Font, Núria Bujan, et al.Plos One|May 27, 2014
Fatty acid transport protein 1 (FATP1) localizes in mitochondria in mouse skeletal muscle and regulates lipid and ketone body disposalMaria Guitart, Oscar Osorio-Conles, Thais Pentinat, et al.Molecular Genetics and Metabolism|March 11, 2008
Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced formAleix Navarro-Sastre, Elena Martín-Hernández, Yolanda Campos, et al.Journal of the Neurological Sciences|May 9, 2006
Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementationRafael Artuch, Gloria Brea-Calvo, Paz Briones, et al.Revista Espanola De Salud Publica|December 16, 2020
[Impact of the inclusion of second-tier tests in the newborn screening program of Catalonia and in other international programs.]Sonia Pajares García, Rosa Mª López Galera, Jose Luis Marín Soria, et al.Journal of Inherited Metabolic Disease|December 21, 2014
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disordersWolfgang Sperl, Leanne Fleuren, Peter Freisinger, et al.Pageof 11