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Most relevant scientific articles
• Yubero D., Brandi N., Ormazabal A., Garcia-Cazorla A., Perez-Duenas B., Campistol J. et al. Targeted next generation sequencing in patients with inborn errors of metabolism. PLoS ONE. 2016;11(5).
• Ortigoza-Escobar J.D., Molero-Luis M., Arias A., Oyarzabal A., Darin N., Serrano M. et al. Free- thiamine is a potential biomarker of Thiamine transporter-2 deficiency: A treatable cause of Leigh syndrome. Brain. 2016;139(1):31-38.
• Campistol J., Diez-Juan M., Callejon L., Fernandez-De Miguel A., Casado M., Garcia Cazorla A. et al. Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders. Developmental Medicine and Child Neurology. 2016.
• Yubero D, Adin A, Montero R, Jou C, Jiménez-Mallebrera C, García-Cazorla A et al. A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities.Scientific reports. 2016;6(1):15.
• Montero R., Yubero D., Villarroya J., Henares D., Jou C., Rodriguez M.A. et al. GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunction. PLoS ONE. 2016;11(2).
Hightlights
We have consolidated our research lines by the funding of different research projects by public or private organisms, such as 2 projects about neurotransmitters and vitamin defects in neuropediatric patients funded by the ISCIII. As more relevant research results, we have described 2 new biomarkers for the diagnosis of mitochondria disorders: GDF-15 and thiamine.
Due to our intensive clinical activity, we got the designation as CSUR for inborn errors of metabolism, for movement disorders and for neuromuscular diseases. These designations opened us the possibility of participations in different European reference networks (metabERN) related with the above-mentioned topics.
We have also participated in the development of 3 international clinical guidelines about inborn errors of metabolism and about aromatic amino acid decarboxylase deficiency, both of the published in international journals during 2016-2017 period.
Our lab has experimented a deep transformation during 2016, thanks to a relevant funding that was got this year. We have purchased an UPLC/MS-MS platform which will give us the possibility to improve our capacities about metabolomic studies. Moreover, the medical genetics laboratory, headed by Dr. Palau, will move close to our Laboratory, creating a new department of medical and biochemical genetics, with the main objective of giving a rapid response to the biological questions raised in the investigation of rare disease patients in the NGS era (this laboratory has 2 NGS systems). Finally, the hystopathological department will support all this activity since they also got a confocal microscopy system to confirm the pathogenicity of mutations, and this laboratory is also allocated in the same area.
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