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Items: 1 to 50 of 256

1.

Prevalence of sleep disorders in early-treated phenylketonuric children and adolescents. Correlation with dopamine and serotonin status.

Gassió R, González MJ, Sans O, Artuch R, Sierra C, Ormazabal A, Cuadras D, Campistol J.

Eur J Paediatr Neurol. 2019 Aug 26. pii: S1090-3798(19)30176-X. doi: 10.1016/j.ejpn.2019.08.005. [Epub ahead of print]

2.

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.

Pillai NR, Yubero D, Shayota BJ, Oyarzábal A, Ghosh R, Sun Q, Azamian MS, Arjona C, Brandi N, Palau F, Lalani SR, Artuch R, García-Cazorla A, Scott DA.

Am J Med Genet A. 2019 Sep 13. doi: 10.1002/ajmg.a.61357. [Epub ahead of print]

PMID:
31520464
3.

ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency.

Vázquez-Fonseca L, Schaefer J, Navas-Enamorado I, Santos-Ocaña C, Hernández-Camacho JD, Guerra I, Cascajo MV, Sánchez-Cuesta A, Horvath Z, Siendones E, Jou C, Casado M, Gutiérrez P, Brea-Calvo G, López-Lluch G, Fernández-Ayala DJM, Cortés-Rodríguez AB, Rodríguez-Aguilera JC, Matté C, Ribes A, Prieto-Soler SY, Dominguez-Del-Toro E, Francesco AD, Aon MA, Bernier M, Salviati L, Artuch R, Cabo R, Jackson S, Navas P.

J Clin Med. 2019 Sep 2;8(9). pii: E1374. doi: 10.3390/jcm8091374.

4.

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R.

J Inherit Metab Dis. 2019 Jul 24. doi: 10.1002/jimd.12156. [Epub ahead of print]

PMID:
31339582
5.

Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.

Castells AA, Gueraldi D, Balada R, Tristán-Noguero A, Cortès-Saladelafont E, Ramos F, Meavilla S, De Los Santos M, Garcia-Volpe C, Colomé R, Couce ML, Sierra C, Ormazábal A, Batllori M, Artuch R, Armstrong J, Alcántara S, Garcia-Cazorla À.

Sci Rep. 2019 Jun 24;9(1):9128. doi: 10.1038/s41598-019-45674-2.

6.

Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption.

Pérez-Rius C, Castellanos A, Gaitán-Peñas H, Navarro A, Artuch R, Barrallo-Gimeno A, Estévez R.

J Physiol. 2019 Aug;597(15):3969-3983. doi: 10.1113/JP278069. Epub 2019 Jul 3.

PMID:
31177533
7.

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study.

Casasnovas C, Ruiz M, Schlüter A, Naudí A, Fourcade S, Veciana M, Castañer S, Albertí A, Bargalló N, Johnson M, Raymond GV, Fatemi A, Moser AB, Villarroya F, Portero-Otín M, Artuch R, Pamplona R, Pujol A.

Neurotherapeutics. 2019 May 10. doi: 10.1007/s13311-019-00735-2. [Epub ahead of print]

PMID:
31077039
8.

Cerebrospinal Fluid Neopterin in Children With Enterovirus-Related Brainstem Encephalitis.

Casas-Alba D, Valero-Rello A, Muchart J, Armangué T, Jordan I, Cabrerizo M, Molero-Luís M, Artuch R, Fortuny C, Muñoz-Almagro C, Launes C.

Pediatr Neurol. 2019 Jul;96:70-73. doi: 10.1016/j.pediatrneurol.2019.01.024. Epub 2019 Feb 7.

PMID:
30935719
9.

Cerebral folate deficiency: Analytical tests and differential diagnosis.

Pope S, Artuch R, Heales S, Rahman S.

J Inherit Metab Dis. 2019 Jul;42(4):655-672. doi: 10.1002/jimd.12092. Epub 2019 May 2. Review.

PMID:
30916789
10.

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).

Martínez-Monseny AF, Bolasell M, Callejón-Póo L, Cuadras D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero R, Pérez-Cerdá C, Pérez B, Artuch R, Jaeken J, Serrano M; and the CDG Spanish Consortium.

Ann Neurol. 2019 May;85(5):740-751. doi: 10.1002/ana.25457. Epub 2019 Mar 22.

PMID:
30873657
11.

A targeted metabolomic procedure for amino acid analysis in different biological specimens by ultra-high-performance liquid chromatography-tandem mass spectrometry.

Casado M, Sierra C, Batllori M, Artuch R, Ormazabal A.

Metabolomics. 2018 May 25;14(6):76. doi: 10.1007/s11306-018-1374-4.

PMID:
30830347
12.

The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.

Zouvelou V, Yubero D, Apostolakopoulou L, Kokkinou E, Bilanakis M, Dalivigka Z, Nikas I, Kollia E, Perez-Dueñas B, Macaya A, Marcé-Grau A, Voutetakis A, Anagnostopoulou K, Kekou K, Sofocleus C, Veltra D, Kokkinis X, Fryssira H, Torres RJ, Amstrong J, Santorelli FM, Artuch R, Pons R.

Eur J Paediatr Neurol. 2019 May;23(3):427-437. doi: 10.1016/j.ejpn.2019.02.001. Epub 2019 Feb 14.

PMID:
30799092
13.

Plasma coenzyme Q10 status is impaired in selected genetic conditions.

Montero R, Yubero D, Salgado MC, González MJ, Campistol J, O'Callaghan MDM, Pineda M, Delgadillo V, Maynou J, Fernandez G, Montoya J, Ruiz-Pesini E, Meavilla S, Neergheen V, García-Cazorla A, Navas P, Hargreaves I, Artuch R.

Sci Rep. 2019 Jan 28;9(1):793. doi: 10.1038/s41598-018-37542-2.

14.

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.

Baide-Mairena H, Gaudó P, Marti-Sánchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya J, Bayona-Bafaluy MP, Pérez-Dueñas B.

Mol Genet Metab. 2019 Mar;126(3):250-258. doi: 10.1016/j.ymgme.2019.01.001. Epub 2019 Jan 5.

PMID:
30642748
15.

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.

Jou C, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Darling A, Pias-Peleteiro L, Perez-Dueñas B, Pineda M, Codina A, Arjona C, Armstrong J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya J, Yubero D, Artuch R.

J Clin Med. 2019 Jan 10;8(1). pii: E68. doi: 10.3390/jcm8010068.

16.

Synaptic metabolism and brain circuitries in inborn errors of metabolism.

García-Cazorla À, Artuch R, Bayès À.

J Inherit Metab Dis. 2018 Nov;41(6):909-910. doi: 10.1007/s10545-018-00252-y. No abstract available.

PMID:
30488280
17.

NGS for Metabolic Disease Diagnosis.

Yubero D, Artuch R.

EJIFCC. 2018 Nov 7;29(3):227-229. eCollection 2018 Nov. No abstract available.

18.

Satisfaction With the Self-Assessment of University Students Through e-Coping With Academic Stress Utility TM.

de la Fuente J, Martínez-Vicente JM, Peralta-Sánchez FJ, González-Torres MC, Artuch R, Garzón-Umerenkova A.

Front Psychol. 2018 Nov 8;9:1932. doi: 10.3389/fpsyg.2018.01932. eCollection 2018.

19.

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium.

J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21.

PMID:
30464053
20.

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.

21.

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. 2019;45:65-69. doi: 10.1007/8904_2018_138. Epub 2018 Oct 23.

22.

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 Nov;41(6):1147-1158. doi: 10.1007/s10545-018-0224-x. Epub 2018 Jul 4.

PMID:
29974349
23.

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. Review.

PMID:
29781757
24.

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.

25.

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.

26.

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
27.

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.

28.

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.

29.

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.

30.

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.

31.

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
32.

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
33.

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
34.

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.

35.

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.

36.

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
37.

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
38.

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.

39.

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
40.

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
41.

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
42.

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
43.

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
44.

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.

45.

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.

46.

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.

47.

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
48.

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.

49.

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
50.

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

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