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Items: 1 to 20 of 252

1.

Effects of LC-PUFA Supplementation in Patients with Phenylketonuria: A Systematic Review of Controlled Trials.

Couce ML, de Castro MJ, de Lamas C, Leis R.

Nutrients. 2019 Jul 6;11(7). pii: E1537. doi: 10.3390/nu11071537. Review.

2.

Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients.

Goyanes A, Madla CM, Umerji A, Duran Piñeiro G, Giraldez Montero JM, Lamas Diaz MJ, Gonzalez Barcia M, Taherali F, Sánchez-Pintos P, Couce ML, Gaisford S, Basit AW.

Int J Pharm. 2019 Jul 4;567:118497. doi: 10.1016/j.ijpharm.2019.118497. [Epub ahead of print]

PMID:
31279771
3.

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.

4.

[Newborn screening for metabolic disorders in Spain and worldwide].

Castiñeras DE, Couce ML, Marin JL, González-Lamuño D, Rocha H.

An Pediatr (Barc). 2019 Jun 21. pii: S1695-4033(19)30198-5. doi: 10.1016/j.anpedi.2019.05.007. [Epub ahead of print] Spanish.

5.

Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report.

Fernández-Marmiesse A, Pérez-Poyato MS, Fontalba A, Marco de Lucas E, Martínez MT, Cabero Pérez MJ, Couce ML.

BMC Med Genet. 2019 Jun 24;20(1):112. doi: 10.1186/s12881-019-0844-5.

6.

Towards the automated economic assessment of newborn screening for rare diseases.

Prieto-González D, Castilla-Rodríguez I, González E, Couce ML.

J Biomed Inform. 2019 Jul;95:103216. doi: 10.1016/j.jbi.2019.103216. Epub 2019 May 22.

PMID:
31128259
7.

Free-access copy-number variant detection tools for targeted next-generation sequencing data.

Roca I, González-Castro L, Fernández H, Couce ML, Fernández-Marmiesse A.

Mutat Res. 2019 Jan - Mar;779:114-125. doi: 10.1016/j.mrrev.2019.02.005. Epub 2019 Feb 23. Review.

PMID:
31097148
8.

A PTPmu Biomarker is Associated with Increased Survival in Gliomas.

Johansen ML, Vincent J, Gittleman H, Craig SEL, Couce M, Sloan AE, Barnholtz-Sloan JS, Brady-Kalnay SM.

Int J Mol Sci. 2019 May 14;20(10). pii: E2372. doi: 10.3390/ijms20102372.

9.

Effects of Dairy Product Consumption on Height and Bone Mineral Content in Children: A Systematic Review of Controlled Trials.

de Lamas C, de Castro MJ, Gil-Campos M, Gil Á, Couce ML, Leis R.

Adv Nutr. 2019 May 1;10(suppl_2):S88-S96. doi: 10.1093/advances/nmy096.

PMID:
31089738
10.

The natural history of classic galactosemia: lessons from the GalNet registry.

Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT.

Orphanet J Rare Dis. 2019 Apr 27;14(1):86. doi: 10.1186/s13023-019-1047-z.

11.

Cohort study showed that growth rate increment has not been enough to prevent growth retardation of preterm infants and raised concerns about unbalanced growth.

Zozaya C, Avila-Alvarez A, Couce ML, García-Muñoz Rodrigo F, Arruza L, Fernandez-Perez C, Castro A, Cuesta MT, Vacas B, Vento M, Saenz de Pipaón M.

Acta Paediatr. 2019 Apr 19. doi: 10.1111/apa.14819. [Epub ahead of print]

PMID:
31002411
12.

Acylcarnitine profile in neonatal hypoxic-ischemic encephalopathy: The value of butyrylcarnitine as a prognostic marker.

López-Suárez O, Concheiro-Guisán A, Sánchez-Pintos P, Cocho JA, Fernández Lorenzo JR, Couce ML.

Medicine (Baltimore). 2019 Apr;98(15):e15221. doi: 10.1097/MD.0000000000015221.

13.

Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria.

Andrade F, Villate O, Couce ML, Bueno MA, Alcalde C, de Las Heras J, Ceberio L, Núñez-Marcos S, Nambo PS, Aldámiz-Echevarría L.

Eur J Pediatr. 2019 Jun;178(6):903-911. doi: 10.1007/s00431-019-03365-0. Epub 2019 Apr 2.

PMID:
30941500
14.

The Effect of Morbidity and Sex on Postnatal Growth of Very Preterm Infants: A Multicenter Cohort Study.

Zozaya C, Avila-Alvarez A, Arruza L, García-Muñoz Rodrigo F, Fernandez-Perez C, Castro A, Cuesta MT, Vacas B, Couce ML, Vento Torres M, Saenz de Pipaón M.

Neonatology. 2019;115(4):348-354. doi: 10.1159/000497221. Epub 2019 Mar 20.

PMID:
30893696
15.

Genomic analysis demonstrates that histologically-defined astroblastomas are molecularly heterogeneous and that tumors with MN1 rearrangement exhibit the most favorable prognosis.

Lehman NL, Usubalieva A, Lin T, Allen SJ, Tran QT, Mobley BC, McLendon RE, Schniederjan MJ, Georgescu MM, Couce M, Dulai MS, Raisanen JM, Al Abbadi M, Palmer CA, Hattab EM, Orr BA.

Acta Neuropathol Commun. 2019 Mar 15;7(1):42. doi: 10.1186/s40478-019-0689-3.

16.

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
17.

Betaine anhydrous in homocystinuria: results from the RoCH registry.

Valayannopoulos V, Schiff M, Guffon N, Nadjar Y, García-Cazorla A, Martinez-Pardo Casanova M, Cano A, Couce ML, Dalmau J, Peña-Quintana L, Rigalleau V, Touati G, Aldamiz-Echevarria L, Cathebras P, Eyer D, Brunet D, Damaj L, Dobbelaere D, Gay C, Hiéronimus S, Levrat V, Maillot F.

Orphanet J Rare Dis. 2019 Mar 14;14(1):66. doi: 10.1186/s13023-019-1036-2.

18.

Non-alcoholic fatty liver in hereditary fructose intolerance.

Aldámiz-Echevarría L, de Las Heras J, Couce ML, Alcalde C, Vitoria I, Bueno M, Blasco-Alonso J, Concepción García M, Ruiz M, Suárez R, Andrade F, Villate O.

Clin Nutr. 2019 Feb 15. pii: S0261-5614(19)30073-1. doi: 10.1016/j.clnu.2019.02.019. [Epub ahead of print]

PMID:
30833214
19.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.

J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17.

PMID:
30773687
20.

Newborn screening for homocystinurias: Recent recommendations versus current practice.

Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M.

J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034.

PMID:
30740731

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