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Items: 1 to 50 of 237

1.

White matter microstructural damage in early treated phenylketonuric patients.

González MJ, Polo MR, Ripollés P, Gassió R, Ormazabal A, Sierra C, Roura RC, Artuch R, Campistol J.

Orphanet J Rare Dis. 2018 Oct 26;13(1):188. doi: 10.1186/s13023-018-0912-5.

2.

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

van Kuilenburg ABP, Meijer J, Meinsma R, Pérez-Dueñas B, Alders M, Bhuiyan ZA, Artuch R, Hennekam RCM.

JIMD Rep. 2018 Oct 23. doi: 10.1007/8904_2018_138. [Epub ahead of print]

PMID:
30349988
3.

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.

Batllori M, Molero-Luis M, Ormazabal A, Montero R, Sierra C, Ribes A, Montoya J, Ruiz-Pesini E, O'Callaghan M, Pias L, Nascimento A, Palau F, Armstrong J, Yubero D, Ortigoza-Escobar JD, García-Cazorla A, Artuch R.

J Inherit Metab Dis. 2018 Jul 4. doi: 10.1007/s10545-018-0224-x. [Epub ahead of print]

PMID:
29974349
4.

Molecular diagnosis of coenzyme Q10 deficiency: an update.

Yubero D, Montero R, Santos-Ocaña C, Salviati L, Navas P, Artuch R.

Expert Rev Mol Diagn. 2018 Jun;18(6):491-498. doi: 10.1080/14737159.2018.1478290. Epub 2018 May 30.

PMID:
29781757
5.

Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids.

Vilches C, Boiadjieva-Knöpfel E, Bodoy S, Camargo S, López de Heredia M, Prat E, Ormazabal A, Artuch R, Zorzano A, Verrey F, Nunes V, Palacín M.

J Am Soc Nephrol. 2018 Jun;29(6):1624-1635. doi: 10.1681/ASN.2017111205. Epub 2018 Apr 2.

PMID:
29610403
6.

Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.

Cortès-Saladelafont E, Molero-Luis M, Cuadras D, Casado M, Armstrong-Morón J, Yubero D, Montoya J, Artuch R, García-Cazorla À; Institut De Recerca Sant Joan De Déu Working Group.

Dev Med Child Neurol. 2018 Aug;60(8):780-792. doi: 10.1111/dmcn.13746. Epub 2018 Mar 25.

PMID:
29577258
7.

Transcriptional alterations in skin fibroblasts from Parkinson's disease patients with parkin mutations.

González-Casacuberta I, Morén C, Juárez-Flores DL, Esteve-Codina A, Sierra C, Catalán-García M, Guitart-Mampel M, Tobías E, Milisenda JC, Pont-Sunyer C, Martí MJ, Cardellach F, Tolosa E, Artuch R, Ezquerra M, Fernández-Santiago R, Garrabou G.

Neurobiol Aging. 2018 May;65:206-216. doi: 10.1016/j.neurobiolaging.2018.01.021. Epub 2018 Feb 7. Erratum in: Neurobiol Aging. 2018 Sep;69:300.

PMID:
29501959
8.

The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient.

Emperador S, Vidal M, Hernández-Ainsa C, Ruiz-Ruiz C, Woods D, Morales-Becerra A, Arruga J, Artuch R, López-Gallardo E, Bayona-Bafaluy MP, Montoya J, Ruiz-Pesini E.

Front Neurosci. 2018 Feb 9;12:61. doi: 10.3389/fnins.2018.00061. eCollection 2018.

9.

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

Izquierdo-Serra M, Martínez-Monseny AF, López L, Carrillo-García J, Edo A, Ortigoza-Escobar JD, García Ó, Cancho-Candela R, Carrasco-Marina ML, Gutiérrez-Solana LG, Cuadras D, Muchart J, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Macaya A, Fernández-Fernández JM, Serrano M.

Int J Mol Sci. 2018 Feb 22;19(2). pii: E619. doi: 10.3390/ijms19020619.

10.

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.

Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero-Luis M, Batllori M, Vanegas MI, Muchart J, Aquino L, Artuch R, Macaya A, Kurian MA, Dueñas P.

Orphanet J Rare Dis. 2018 Jan 30;13(1):28. doi: 10.1186/s13023-018-0758-x.

11.

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.

Batllori M, Molero-Luis M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol J, Ormazabal A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E, Artuch R.

Sci Rep. 2017 Nov 7;7(1):14675. doi: 10.1038/s41598-017-15063-8.

12.

Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.

Batllori M, Molero-Luis M, Ormazabal A, Casado M, Sierra C, García-Cazorla A, Kurian M, Pope S, Heales SJ, Artuch R.

Nat Protoc. 2017 Nov;12(11):2359-2375. doi: 10.1038/nprot.2017.103. Epub 2017 Oct 19.

PMID:
29048424
13.

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.

Ortigoza-Escobar JD, Alfadhel M, Molero-Luis M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch R, Nashabat M, Rodríguez-Pombo P, Tabarki B, Pérez-Dueñas B; Thiamine Deficiency Study Group.

Ann Neurol. 2017 Sep;82(3):317-330. doi: 10.1002/ana.24998. Epub 2017 Aug 30.

PMID:
28856750
14.

Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium.

J Inherit Metab Dis. 2017 Sep;40(5):753-754. doi: 10.1007/s10545-017-0056-0. No abstract available.

PMID:
28600669
15.

Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency.

Romero-Moya D, Santos-Ocaña C, Castaño J, Garrabou G, Rodríguez-Gómez JA, Ruiz-Bonilla V, Bueno C, González-Rodríguez P, Giorgetti A, Perdiguero E, Prieto C, Moren-Nuñez C, Fernández-Ayala DJ, Victoria Cascajo M, Velasco I, Canals JM, Montero R, Yubero D, Jou C, López-Barneo J, Cardellach F, Muñoz-Cánoves P, Artuch R, Navas P, Menendez P.

Stem Cells. 2017 Jul;35(7):1687-1703. doi: 10.1002/stem.2634. Epub 2017 May 23.

16.

A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities.

Yubero D, Adin A, Montero R, Jou C, Jiménez-Mallebrera C, García-Cazorla A, Nascimento A, O'Callaghan MM, Montoya J, Gort L, Navas P, Ribes A, Ugarte MD, Artuch R.

Sci Rep. 2016 Dec 5;6(1):15. doi: 10.1038/s41598-016-0008-1.

17.

Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.

Díez H, Cortès-Saladelafont E, Ormazábal A, Marmiese AF, Armstrong J, Matalonga L, Bravo M, Briones P, Emperador S, Montoya J, Artuch R, Giros M, Garcia-Cazorla À.

Mov Disord. 2017 Jul;32(7):1108-1110. doi: 10.1002/mds.27021. Epub 2017 Apr 24. No abstract available.

PMID:
28436574
18.

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium.

J Inherit Metab Dis. 2017 Sep;40(5):709-713. doi: 10.1007/s10545-017-0028-4. Epub 2017 Mar 24. Erratum in: J Inherit Metab Dis. 2017 Jun 9;:.

PMID:
28341975
19.

The Value of Coenzyme Q10 Determination in Mitochondrial Patients.

Yubero D, Allen G, Artuch R, Montero R.

J Clin Med. 2017 Mar 24;6(4). pii: E37. doi: 10.3390/jcm6040037. Review.

20.

Pyridoxal Phosphate Supplementation in Neuropediatric Disorders.

Cortès-Saladelafont E, Molero-Luis M, Hsjd Working Group, Artuch R, García-Cazorla À.

Semin Pediatr Neurol. 2016 Nov;23(4):351-358. doi: 10.1016/j.spen.2016.11.009. Epub 2016 Nov 10.

PMID:
28284396
21.

Impaired Neurotransmission in Early-treated Phenylketonuria Patients.

González MJ, Gassió R, Artuch R, Campistol J.

Semin Pediatr Neurol. 2016 Nov;23(4):332-340. doi: 10.1016/j.spen.2016.11.007. Epub 2016 Nov 9. Review.

PMID:
28284394
22.

Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission.

Cortès-Saladelafont E, Tristán-Noguero A, Artuch R, Altafaj X, Bayès A, García-Cazorla A.

Semin Pediatr Neurol. 2016 Nov;23(4):306-320. doi: 10.1016/j.spen.2016.11.005. Epub 2016 Nov 15. Review.

PMID:
28284392
23.

Biochemical Analyses of Cerebrospinal Fluid for the Diagnosis of Neurometabolic Conditions. What Can We Expect?

Batllori M, Molero-Luis M, Casado M, Sierra C, Artuch R, Ormazabal A.

Semin Pediatr Neurol. 2016 Nov;23(4):273-284. doi: 10.1016/j.spen.2016.11.002. Epub 2016 Nov 9. Review.

PMID:
28284389
24.

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez Dueñas B, Medrano C, García-Alix A, Artuch R, Briones P, Pérez B.

J Pediatr. 2017 Apr;183:170-177.e1. doi: 10.1016/j.jpeds.2016.12.060. Epub 2017 Jan 27.

PMID:
28139241
25.

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T.

Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Review.

26.

Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Ponce EC, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á.

Orphanet J Rare Dis. 2016 Nov 3;11(1):147. No abstract available.

27.

Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.

Emperador S, Bayona-Bafaluy MP, Fernández-Marmiesse A, Pineda M, Felgueroso B, López-Gallardo E, Artuch R, Roca I, Ruiz-Pesini E, Couce ML, Montoya J.

Eur J Hum Genet. 2016 Jan;25(1):153-156. doi: 10.1038/ejhg.2016.124. Epub 2016 Sep 28.

28.

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

Yubero D, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch R; CoQ deficiency study group, Jou C, Jimenez-Mallebrera C, Nascimento A, Pérez-Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M, Brea-Calvo G.

Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30.

PMID:
27374853
29.

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Yubero D, Brandi N, Ormazabal A, Garcia-Cazorla À, Pérez-Dueñas B, Campistol J, Ribes A, Palau F, Artuch R, Armstrong J; Working Group.

PLoS One. 2016 May 31;11(5):e0156359. doi: 10.1371/journal.pone.0156359. eCollection 2016.

30.

Treatment of genetic defects of thiamine transport and metabolism.

Ortigoza-Escobar JD, Molero-Luis M, Arias A, Martí-Sánchez L, Rodriguez-Pombo P, Artuch R, Pérez-Dueñas B.

Expert Rev Neurother. 2016 Jul;16(7):755-63. doi: 10.1080/14737175.2016.1187562. Epub 2016 May 23. Review.

PMID:
27191787
31.

Ndufs4 related Leigh syndrome: A case report and review of the literature.

Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B.

Mitochondrion. 2016 May;28:73-8. doi: 10.1016/j.mito.2016.04.001. Epub 2016 Apr 11. Review.

PMID:
27079373
32.

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment.

Bravo-Alonso I, Oyarzabal A, Sánchez-Aragó M, Rejas MT, Merinero B, García-Cazorla A, Artuch R, Ugarte M, Rodríguez-Pombo P.

Data Brief. 2016 Mar 15;7:755-9. doi: 10.1016/j.dib.2016.03.038. eCollection 2016 Jun.

33.

Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders.

Campistol J, Díez-Juan M, Callejón L, Fernandez-De Miguel A, Casado M, Garcia Cazorla A, Lozano R, Artuch R.

Dev Med Child Neurol. 2016 Aug;58(8):842-7. doi: 10.1111/dmcn.13114. Epub 2016 Mar 31.

34.

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

Montero R, Yubero D, Villarroya J, Henares D, Jou C, Rodríguez MA, Ramos F, Nascimento A, Ortez CI, Campistol J, Perez-Dueñas B, O'Callaghan M, Pineda M, Garcia-Cazorla A, Oferil JC, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya F, Artuch R, Jimenez-Mallebrera C.

PLoS One. 2016 Feb 11;11(2):e0148709. doi: 10.1371/journal.pone.0148709. eCollection 2016. Erratum in: PLoS One. 2016;11(5):e0155172.

35.

Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism.

Oyarzabal A, Bravo-Alonso I, Sánchez-Aragó M, Rejas MT, Merinero B, García-Cazorla A, Artuch R, Ugarte M, Rodríguez-Pombo P.

Biochim Biophys Acta. 2016 Apr;1862(4):592-600. doi: 10.1016/j.bbadis.2016.01.016. Epub 2016 Jan 22.

36.

Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population.

Yubero D, Montero R, Ramos M, Neergheen V, Navas P, Artuch R, Hargreaves I.

Biofactors. 2015 Nov-Dec;41(6):424-30. doi: 10.1002/biof.1242. Epub 2015 Nov 19.

PMID:
26768296
37.

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Castejon Ponce E, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á.

Orphanet J Rare Dis. 2015 Dec 30;10:164. doi: 10.1186/s13023-015-0376-9. Review. Erratum in: Orphanet J Rare Dis. 2016 Nov 3;11(1):147.

38.

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism.

Tristán-Noguero A, Díez H, Jou C, Pineda M, Ormazábal A, Sánchez A, Artuch R, Garcia-Cazorla À.

Metab Brain Dis. 2016 Jun;31(3):705-9. doi: 10.1007/s11011-015-9780-z. Epub 2015 Dec 21.

PMID:
26686676
39.

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.

Brain. 2016 Jan;139(Pt 1):31-8. doi: 10.1093/brain/awv342. Epub 2015 Dec 10.

PMID:
26657515
40.

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B.

Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y.

41.

Efficacy of the Ketogenic Diet for the Treatment of Refractory Childhood Epilepsy: Cerebrospinal Fluid Neurotransmitters and Amino Acid Levels.

Sariego-Jamardo A, García-Cazorla A, Artuch R, Castejón E, García-Arenas D, Molero-Luis M, Ormazábal A, Sanmartí FX.

Pediatr Neurol. 2015 Nov;53(5):422-6. doi: 10.1016/j.pediatrneurol.2015.07.013. Epub 2015 Aug 8.

PMID:
26476148
42.

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.

Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernández-Marmiesse A, Palacios L, Jou C, Jiménez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R, Taylor RW.

Front Genet. 2015 Jul 28;6:254. doi: 10.3389/fgene.2015.00254. eCollection 2015.

43.

Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.

Yubero D, Montero R, O'Callaghan M, Pineda M, Meavilla S, Delgadillo V, Sierra C, Altimira L, Navas P, Pope S, Oppenheim M, Neergheen V, Ghosh A, Mills P, Clayton P, Footitt E, Cleary M, Hargreaves I, Jones SA, Heales S, Artuch R.

JIMD Rep. 2016;25:1-7. Epub 2015 Jul 24.

44.

Can folic acid have a role in mitochondrial disorders?

Ormazabal A, Casado M, Molero-Luis M, Montoya J, Rahman S, Aylett SB, Hargreaves I, Heales S, Artuch R.

Drug Discov Today. 2015 Nov;20(11):1349-54. doi: 10.1016/j.drudis.2015.07.002. Epub 2015 Jul 14. Review.

PMID:
26183769
45.

Molecular diagnosis of coenzyme Q10 deficiency.

Yubero D, Montero R, Armstrong J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P, Artuch R.

Expert Rev Mol Diagn. 2015;15(8):1049-59. doi: 10.1586/14737159.2015.1062727. Epub 2015 Jul 4. Review.

PMID:
26144946
46.

Clinical, etiological and therapeutic aspects of cerebral folate deficiency.

Molero-Luis M, Serrano M, O'Callaghan MM, Sierra C, Pérez-Dueñas B, García-Cazorla A, Artuch R.

Expert Rev Neurother. 2015;15(7):793-802. doi: 10.1586/14737175.2015.1055322. Epub 2015 Jun 19. Review.

PMID:
26092490
47.

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.

Asencio C, Rodríguez-Hernandez MA, Briones P, Montoya J, Cortés A, Emperador S, Gavilán A, Ruiz-Pesini E, Yubero D, Montero R, Pineda M, O'Callaghan MM, Alcázar-Fabra M, Salviati L, Artuch R, Navas P.

Eur J Hum Genet. 2016 Mar;24(3):367-72. doi: 10.1038/ejhg.2015.112. Epub 2015 May 27.

48.

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.

Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernández-Marmiesse A, Palacios L, Jou C, Jiménez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R, Taylor RW.

Front Genet. 2015 Mar 23;6:102. doi: 10.3389/fgene.2015.00102. eCollection 2015. Erratum in: Front Genet. 2015;6:254.

49.

Mutation loads in different tissues from six pathogenic mtDNA point mutations.

O'Callaghan MM, Emperador S, Pineda M, López-Gallardo E, Montero R, Yubero D, Jou C, Jimenez-Mallebrera C, Nascimento A, Ferrer I, García-Cazorla A, Ruiz-Pesini E, Montoya J, Artuch R.

Mitochondrion. 2015 May;22:17-22. doi: 10.1016/j.mito.2015.03.001. Epub 2015 Mar 10.

PMID:
25765153
50.

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.

Quijada-Fraile P, O'Callaghan M, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón AM, Muchart J, Málaga I, Pardo R, García-Gonzalez P, Jou C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin MA, Ormazabal A, Pineda M, García-Silva MT, Artuch R.

Orphanet J Rare Dis. 2014 Dec 24;9:217. doi: 10.1186/s13023-014-0217-2.

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