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Items: 1 to 50 of 147

1.

Synaptic metabolism: a new approach to inborn errors of neurotransmission.

Tristán-Noguero A, García-Cazorla À.

J Inherit Metab Dis. 2018 Jul 16. doi: 10.1007/s10545-018-0235-7. [Epub ahead of print]

PMID:
30014210
2.

Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.

García-Cazorla À, Saudubray JM.

J Inherit Metab Dis. 2018 Jul 16. doi: 10.1007/s10545-018-0226-8. [Epub ahead of print]

PMID:
30014209
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.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases.

Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Ah Mew N, Batshaw ML, Baumgartner MR, McCandless S, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P; Additional individual contributors of the UCDC and the E-IMD consortium.

J Inherit Metab Dis. 2018 Jul 4. doi: 10.1007/s10545-018-0222-z. [Epub ahead of print]

PMID:
29974348
5.

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias.

Chakrapani A, Valayannopoulos V, Segarra NG, Del Toro M, Donati MA, García-Cazorla A, González MJ, Plisson C, Giordano V.

Orphanet J Rare Dis. 2018 Jun 20;13(1):97. doi: 10.1186/s13023-018-0840-4.

6.

[New insights in inborn errors of metabolism are leading to new paradigms in child neurology].

Garcia-Cazorla A, Saudubray JM.

Rev Neurol. 2018 Jun 5;66(s02):S37-S42. Spanish.

7.

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
8.

Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.

Saudubray JM, Garcia-Cazorla À.

Pediatr Clin North Am. 2018 Apr;65(2):179-208. doi: 10.1016/j.pcl.2017.11.002. Review.

PMID:
29502909
9.

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Posset R, Garcia-Cazorla A, Valayannopoulos V, Leão Teles E, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2018 Jul;41(4):743-744. doi: 10.1007/s10545-017-0117-4.

PMID:
29330779
10.

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.

11.

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
12.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group.

Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3.

13.

Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement.

Soto D, Olivella M, Grau C, Armstrong J, Alcon C, Gasull X, Gómez de Salazar M, Gratacòs-Batlle E, Ramos-Vicente D, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, García-Cazorla À, Altafaj X.

Biol Psychiatry. 2018 Jan 15;83(2):160-172. doi: 10.1016/j.biopsych.2017.05.028. Epub 2017 Jun 16. Retraction in: Biol Psychiatry. 2018 Apr 15;83(8):715.

PMID:
28734458
14.

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.

15.

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
16.

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
17.

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
18.

Neuromuscular Manifestations in Mitochondrial Diseases in Children.

Nascimento A, Ortez C, Jou C, O'Callaghan M, Ramos F, Garcia-Cazorla À.

Semin Pediatr Neurol. 2016 Nov;23(4):290-305. doi: 10.1016/j.spen.2016.11.004. Epub 2016 Nov 9. Review.

PMID:
28284391
19.

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, García-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JLK, Ugarte M, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P.

Hum Mutat. 2017 Jun;38(6):678-691. doi: 10.1002/humu.23208. Epub 2017 Mar 20.

PMID:
28244183
20.

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.

21.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C.

J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. Review.

22.

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.

Opladen T, Cortès-Saladelafont E, Mastrangelo M, Horvath G, Pons R, Lopez-Laso E, Fernández-Ramos JA, Honzik T, Pearson T, Friedman J, Scholl-Bürgi S, Wassenberg T, Jung-Klawitter S, Kuseyri O, Jeltsch K, Kurian MA, Garcia-Cazorla À; International Working Group on Neurotransmitter related disorders (iNTD).

Mol Genet Metab Rep. 2016 Oct 20;9:61-66. eCollection 2016 Dec.

23.

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.

24.

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
25.

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.

26.

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2016 Sep;39(5):661-672. doi: 10.1007/s10545-016-9938-9. Epub 2016 Apr 22. Erratum in: J Inherit Metab Dis. 2018 Jan 12;:.

PMID:
27106216
27.

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.

28.

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.

29.

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.

Valayannopoulos V, Baruteau J, Delgado MB, Cano A, Couce ML, Del Toro M, Donati MA, Garcia-Cazorla A, Gil-Ortega D, Gomez-de Quero P, Guffon N, Hofstede FC, Kalkan-Ucar S, Coker M, Lama-More R, Martinez-Pardo Casanova M, Molina A, Pichard S, Papadia F, Rosello P, Plisson C, Le Mouhaer J, Chakrapani A.

Orphanet J Rare Dis. 2016 Mar 31;11:32. doi: 10.1186/s13023-016-0406-2.

30.

Erratum to "Discovery of compounds that protect tyrosine hydroxylase activity through different mechanisms" [Biochim. Biophys. Acta 1854/9 (2015) 1078-1089].

Hole M, Underhaug J, Diez H, Ying M, Røhr ÅK, Jorge-Finnigan A, Fernàndez-Castillo N, García-Cazorla A, Kristoffer Andersson K, Teigen K, Martinez A.

Biochim Biophys Acta. 2016 Mar;1864(3):317. doi: 10.1016/j.bbapap.2015.11.008. Epub 2015 Dec 14. No abstract available.

PMID:
28899516
31.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.

Llorca-Cardeñosa A, Català-Mora J, García-Cazorla A, Meavilla S, Castejón-Ponce E.

Arch Soc Esp Oftalmol. 2016 May;91(5):236-9. doi: 10.1016/j.oftal.2016.01.006. Epub 2016 Feb 16. English, Spanish.

PMID:
26896063
32.

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.

33.

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.

34.

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.

35.

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou C, O'Callaghan M, Pineda M, Montero R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A, Tort F.

Mitochondrion. 2016 Jan;26:72-80. doi: 10.1016/j.mito.2015.12.004. Epub 2015 Dec 11.

PMID:
26688339
36.

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
37.

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
38.

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.

39.

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
40.

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.

Jamiolkowski D, Kölker S, Glahn EM, Barić I, Zeman J, Baumgartner MR, Mühlhausen C, Garcia-Cazorla A, Gleich F, Haege G, Burgard P; E-IMD consortium.

J Inherit Metab Dis. 2016 Mar;39(2):231-41. doi: 10.1007/s10545-015-9887-8. Epub 2015 Aug 27.

PMID:
26310964
41.

Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.

Couce ML, Ramos F, Bueno MA, Díaz J, Meavilla S, Bóveda MD, Fernández-Marmiesse A, García-Cazorla A.

Eur J Paediatr Neurol. 2015 Nov;19(6):652-9. doi: 10.1016/j.ejpn.2015.07.009. Epub 2015 Jul 20.

PMID:
26232051
42.

Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells.

Fernandes TG, Duarte ST, Ghazvini M, Gaspar C, Santos DC, Porteira AR, Rodrigues GM, Haupt S, Rombo DM, Armstrong J, Sebastião AM, Gribnau J, Garcia-Cazorla À, Brüstle O, Henrique D, Cabral JM, Diogo MM.

Biotechnol J. 2015 Oct;10(10):1578-88. doi: 10.1002/biot.201400751. Epub 2015 Jun 30.

PMID:
26123315
43.

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

44.

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
45.

Discovery of compounds that protect tyrosine hydroxylase activity through different mechanisms.

Hole M, Underhaug J, Diez H, Ying M, Røhr ÅK, Jorge-Finnigan A, Fernàndez-Castillo N, García-Cazorla A, Andersson KK, Teigen K, Martinez A.

Biochim Biophys Acta. 2015 Sep;1854(9):1078-89. doi: 10.1016/j.bbapap.2015.04.030. Epub 2015 May 8. Erratum in: Biochim Biophys Acta. 2016 Mar;1864(3):317.

PMID:
25960279
46.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A.

J Inherit Metab Dis. 2015 Nov;38(6):1059-74. doi: 10.1007/s10545-015-9840-x. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1157-8. Garcia Cazorla, Angeles [corrected to Garcia-Cazorla, Angeles].

PMID:
25875216
47.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Nov;38(6):1041-57. doi: 10.1007/s10545-015-9839-3. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1155-6. Cazorla, Angeles Garcia [corrected to Garcia-Cazorla, Angeles].

PMID:
25875215
48.

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
49.

[Neuronal communication and synaptic metabolism in childhood epilepsy].

García-Cazorla À, Cortès-Saladelafont E, Duarte S.

Rev Neurol. 2015 Mar 1;60(5):219-28. Review. Spanish.

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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