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Most relevant scientific articles
• Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes . tort F, Ferrer-cortès x, tHió m, naVarro-sastre a, matalonGa l, quintana e, buJan n, arias a, García-Villoria J, acquaViVa c, Vianey-saban c, artucH r, García-cazorla à, briones p, ribes a. Hum Mol Genet; 2014 Apr 1 . 23(7):1907-15 .
• Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients . García-cazorla a, oyarzabal a, Fort J, robles c, casteJón e, ruiz-sala p, boDoy s, merinero b, lopez-sala a, Dopazo J, nunes V, uGarte m, artucH r, palacín m, roDríGuez-pombo p, alcaiDe p, naVarrete r, sanz p, Font-llitJós m, Vilaseca ma, ormaizabal a, pristoupiloVa a, aGulló sb. Hum Mutat; 2014 Apr . 35(4):470-7
• Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndro- me . quiJaDa-Fraile p, o callaGHan m, martín-HernánDez e, montero r, Garcia-cazorla à, De araGón a, mucHart J, málaGa i, parDo r, García-Gonzalez p, Jou c, montoya J, emperaDor s, ruiz-pesini e, arenas J, martin m, ormazabal a, pineDa m, García-silVa mt, artucH r. Orphanet J Rare Dis; 2014 Dec 24 . [Epub ahead of print];
• A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases . casaDo m, altimira l, montero r, casteJón e, nascimento a, pérez-Dueñas b, ormazabal a, artucH r Anal Bioanal Chem; 2014 Jul . 406(18):4337-43 .
• Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myo- pathies . KalKo sG, paco s, Jou c, roDríGuez ma, meznaric m, roGac m, JeKoVec-VrHoVseK m, sciacco m, moGGio m, FaGiolari G, De paepe b, De meirleir l, Ferrer i, roiG-quilis m, munell F, montoya J, lópez-GallarDo e, ruiz-pesini e, ar- tucH r, montero r, torner F, nascimento a, ortez c, colomer J, Jiménez-mallebrera c BMC Genomics; 2014 15:91 .
Highlights
Institution: Fundación para la Investigación y Docencia Sant Joan de Deu Contact: Hospital Sant Joan de Déu . Unidad de Enfermedades Metabólicas . Passeig Sant Joan de Déu, 2 . 08950 Esplugas de Llobregat, Barcelona 3 Phone: (+34) 93 280 61 69 E .mail: rartuch@hsjdbcn .org · Websites: www .hsjdbcn .org / www .guiametabolica .org
In 2015, we have found 2 new research projects, that it will lead us to cosolidate 2 research lines: 1) the congenital disorders of glycosylation and 2) the Analyses of different biochemical markes in cerebrospinal fluid for the study of neuropediatric diseases . The collaborations of our gruop inside the CIBERER have been growing in the last years, and include gruops 705, 708, 715, 717, 720, 722, 723, 726, 727, 730, 731, 732, 736, 737, 746, 753, 759 . We have also participate in teh creation and consolidation of the first Spanish Unit for the follow-up of adult patients with inborn errors of metabolism, together with the Hospital Clinic and IBC from Barcelona . Our group has been designed as one of the 2 reference centers in Catalonia for the clinical management of patients with inborn errors of metabolism detected in the expanded newborn screening program (since february 2013) . We also have stable and godo collaborations with several clinical groups recently associated with the CIBERER (GCV03, 05, 07, 08, 09 and 10) .
Regarding the future actions, our Hospital is sufering a deep transformation with the creation of a new Pediatric Institute for rare diseases, which will include 5 areas: 1) Assistential, 2) Diagnostic platforms . 3) research . 4) Big data . 5) Family associations and other social groups relationship . Inside this institute, our research line will be inborn errors of metabolism but we will reinforce the genetic diagnosis of these diseases . Furthermore, the clinical trials in inborn errors of metabolism will be one of our main interests .
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