Tondo M - Search Results

1

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Ortigoza-Escobar JD, Molero-Luis M, Arias A, Oyarzabal A, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch R, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Among authors: tondo m. Brain. 2016 Jan;139(Pt 1):31-8. doi: 10.1093/brain/awv342. Epub 2015 Dec 10. Brain. 2016. PMID: 26657515 Clinical Trial.

2

Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin.

Vilaseca MA, Lambruschini N, Gómez-López L, Gutiérrez A, Moreno J, Tondo M, Artuch R, Campistol J. Vilaseca MA, et al. Among authors: tondo m. Clin Biochem. 2010 Mar;43(4-5):411-5. doi: 10.1016/j.clinbiochem.2009.11.013. Epub 2009 Dec 3. Clin Biochem. 2010. PMID: 19948162

3

The monitoring of trace elements in blood samples from patients with inborn errors of metabolism.

Tondo M, Lambruschini N, Gomez-Lopez L, Gutierrez A, Moreno J, García-Cazorla A, Pérez-Dueñas B, Pineda M, Campistol J, Vilaseca MA, Artuch R. Tondo M, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S43-9. doi: 10.1007/s10545-009-9015-8. Epub 2010 Jan 6. J Inherit Metab Dis. 2010. PMID: 20052548

4

Selenium concentration in cerebrospinal fluid samples from a paediatric population.

Tondo M, Moreno J, Casado M, Brandi N, Sierra C, Vilaseca MA, Ormazabal A, Artuch R. Tondo M, et al. Neurochem Res. 2010 Aug;35(8):1290-3. doi: 10.1007/s11064-010-0182-7. Epub 2010 May 11. Neurochem Res. 2010. PMID: 20458534

5

Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients.

Tondo M, Málaga I, O'Callaghan M, Serrano M, Emperador S, Ormazabal A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M, Artuch R. Tondo M, et al. Mitochondrion. 2011 Nov;11(6):867-70. doi: 10.1016/j.mito.2011.06.009. Epub 2011 Jul 2. Mitochondrion. 2011. PMID: 21745599

6

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Dueñas B, Pérez-Cerda C, Artuch R. Tondo M, et al. Mol Genet Metab. 2013 Nov;110(3):231-6. doi: 10.1016/j.ymgme.2013.06.021. Epub 2013 Jul 6. Mol Genet Metab. 2013. PMID: 23890588

7

Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy.

Tondo M, Gámez J, Gutiérrez-Rivas E, Medel-Jiménez R, Martorell L. Tondo M, et al. J Neurol. 2012 Aug;259(8):1546-52. doi: 10.1007/s00415-011-6374-5. Epub 2012 Jan 10. J Neurol. 2012. PMID: 22231868

8

The Aβ1-42/Aβ1-40 ratio in CSF is more strongly associated to tau markers and clinical progression than Aβ1-42 alone.

Delaby C, Estellés T, Zhu N, Arranz J, Barroeta I, Carmona-Iragui M, Illán-Gala I, Santos-Santos MÁ, Altuna M, Sala I, Sánchez-Saudinós MB, Videla L, Valldeneu S, Subirana A, Tondo M, Blanco-Vaca F, Lehmann S, Belbin O, Blesa R, Fortea J, Lleó A, Alcolea D. Delaby C, et al. Among authors: tondo m. Alzheimers Res Ther. 2022 Feb 1;14(1):20. doi: 10.1186/s13195-022-00967-z. Alzheimers Res Ther. 2022. PMID: 35105351 Free PMC article.

9

Importance of cerebrospinal fluid storage conditions for the Alzheimer's disease diagnostics on an automated platform.

Ferrer R, Zhu N, Arranz J, Porcel I, El Bounasri S, Sánchez O, Torres S, Julve J, Lleó A, Blanco-Vaca F, Alcolea D, Tondo M. Ferrer R, et al. Among authors: tondo m. Clin Chem Lab Med. 2022 Apr 12;60(7):1058-1063. doi: 10.1515/cclm-2022-0134. Print 2022 Jun 27. Clin Chem Lab Med. 2022. PMID: 35405043

10

Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphism in the BDNF gene play a role?

Tondo M, Poo P, Naudó M, Ferrando T, Genovés J, Molero M, Martorell L. Tondo M, et al. Epilepsy Behav. 2011 Nov;22(3):581-3. doi: 10.1016/j.yebeh.2011.08.003. Epub 2011 Sep 3. Epilepsy Behav. 2011. PMID: 21890420

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