Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 44

1.

Food Protein-Induced Enterocolitis Syndrome: Data from a Multicenter Retrospective Study in Spain.

Díaz JJ, Espín B, Segarra O, Domínguez-Ortega G, Blasco-Alonso J, Cano B, Rayo A, Moreno A; Gastrointestinal Allergy Working Group of the Spanish Society of Pediatric Gastroenterology, Hepatology and Nutrition (SEGHNP).

J Pediatr Gastroenterol Nutr. 2018 Oct 12. doi: 10.1097/MPG.0000000000002169. [Epub ahead of print]

PMID:
30320669
2.

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, Alcalde Martin C, 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. 2018 Sep 3. doi: 10.1007/s10545-018-0238-4. [Epub ahead of print]

PMID:
30178268
3.

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.

Pintos-Morell G, Blasco-Alonso J, Couce ML, Gutiérrez-Solana LG, Guillén-Navarro E, O'Callaghan M, Del Toro M.

Mol Genet Metab Rep. 2018 Apr 5;15:116-120. doi: 10.1016/j.ymgmr.2018.03.009. eCollection 2018 Jun.

4.

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 C, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M.

J Inherit Metab Dis. 2018 Jun 15. doi: 10.1007/s10545-018-0213-0. [Epub ahead of print]

PMID:
29943221
5.

[Faecal microbiota transplant in a child with very early onset inflammatory bowel disease].

Sierra Salinas C, Vicioso Recio MI, Blasco-Alonso J, Serrano Nieto MJ, Navas-López VM.

An Pediatr (Barc). 2018 Sep;89(3):184-186. doi: 10.1016/j.anpedi.2017.10.011. Epub 2017 Dec 11. Spanish. No abstract available.

6.

[Spanish multicenter study: hyperammonemia not associated with inborn errors of metabolism in children].

Gil Campos M, Blasco-Alonso J, Sierra Córcoles C, Cuevas Cervera JL, Arrabal Fernández L, Aldámiz Echevarría L, Belanger A.

Nutr Hosp. 2017 Jul 28;34(4):814-819. doi: 10.20960/nh.409. Spanish.

7.

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Merinero B, Alcaide P, Martín-Hernández E, Morais A, García-Silva MT, Quijada-Fraile P, Pedrón-Giner C, Dulin E, Yahyaoui R, Egea JM, Belanger-Quintana A, Blasco-Alonso J, Fernandez Ruano ML, Besga B, Ferrer-López I, Leal F, Ugarte M, Ruiz-Sala P, Pérez B, Pérez-Cerdá C.

JIMD Rep. 2018;39:63-74. doi: 10.1007/8904_2017_40. Epub 2017 Jul 29.

8.

[Neopterin levels and systemic inflammatory response syndrome in pediatric critically ill patients].

Gil-Gómez R, Blasco-Alonso J, Sánchez-Yáñez P, Rosa-Camacho V, Milano Manso G.

An Pediatr (Barc). 2017 Dec;87(6):343-349. doi: 10.1016/j.anpedi.2016.11.011. Epub 2017 Apr 22. Spanish.

9.

[Clinical guidelines for infantile-onset Pompe disease].

Pascual-Pascual SI, Nascimento A, Fernandez-Llamazares CM, Medrano-Lopez C, Villalobos-Pinto E, Martinez-Moreno M, Ley M, Manrique-Rodriguez S, Blasco-Alonso J.

Rev Neurol. 2016 Sep 16;63(6):269-79. Spanish.

10.

Metastatic Crohn's disease in pediatrics.

Blasco Alonso J, Girón Fernández-Crehuet F, Lendínez Ramírez MA, Gallego Gutiérrez S, Luque Pérez S, Serrano Nieto J, Navas López VM, Sierra Salinas C.

Rev Esp Enferm Dig. 2016 Sep;108(9):598-603. doi: 10.17235/reed.2016.3948/2015.

11.

[The value of the kinetics of citrulline andarginine as a prognostic factor in critically ill paediatric patients. Author's reply].

Blasco-Alonso J, Rosa Camacho V, Sánchez Yáñez P, Gil-Gómez R.

An Pediatr (Barc). 2016 Mar;84(3):184-5. doi: 10.1016/j.anpedi.2016.01.002. Epub 2016 Feb 1. Spanish. No abstract available.

12.

[The duodenal microbiota composition in children with active coeliac disease is influenced by the degree of enteropathy].

Girón Fernández-Crehuet F, Tapia-Paniagua S, Moriñigo Gutiérrez MA, Navas-López VM, Juliana Serrano M, Blasco-Alonso J, Sierra Salinas C.

An Pediatr (Barc). 2016 Apr;84(4):224-30. doi: 10.1016/j.anpedi.2015.06.014. Epub 2015 Nov 19. Spanish.

13.

Successful treatment for ulcerative proctitis with rectal tacrolimus in an 8-year-old girl with intolerance to mesalamine.

Navas-López VM, Blasco-Alonso J, Girón Fernández-Crehuet F, Serrano Nieto MJ, Gallego-Gutiérrez S, Luque Pérez S, Sierra Salinas C.

Clin J Gastroenterol. 2014 Aug;7(4):320-3. doi: 10.1007/s12328-014-0506-2. Epub 2014 Jun 25.

PMID:
26185880
14.

Erratum to: 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, Cazorla AG.

J Inherit Metab Dis. 2015 Nov;38(6):1157-8. doi: 10.1007/s10545-015-9868-y. No abstract available.

PMID:
26077421
15.

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

Kölker S, Cazorla AG, 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):1155-6. doi: 10.1007/s10545-015-9867-z. No abstract available.

PMID:
26077420
16.

Successful Mercaptopurine Usage despite Azathioprine-Induced Pancreatitis in Paediatric Crohn's Disease.

Gallego-Gutiérrez S, Navas-López VM, Kolorz M, Bartosova L, Lukac K, Luque-Pérez S, Núñez-Caro L, García-Galán P, Fernández-Crehuet FG, Blasco-Alonso J, Serrano-Nieto MJ, Sierra-Salinas C.

J Crohns Colitis. 2015 Aug;9(8):676-9. doi: 10.1093/ecco-jcc/jjv086. Epub 2015 May 12.

PMID:
25968582
17.

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
18.

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
19.

Prognostic indicators after cardiac surgery in children and their relationship with the oxidative stress response.

Gil-Gómez R, Blasco-Alonso J, Castillo-Martín R, Milano-Manso G.

Rev Esp Anestesiol Reanim. 2016 Jan;63(1):3-12. doi: 10.1016/j.redar.2015.01.015. Epub 2015 Mar 12. English, Spanish.

PMID:
25770787
20.

[Citrulline and arginine kinetics and its value as a prognostic factor in pediatric critically ill patients].

Blasco-Alonso J, SánchezYáñez P, Rosa Camacho V, Camacho Alonso JM, Yahyaoui Macías R, Gil-Gómez R, Milano Manso G.

An Pediatr (Barc). 2015 Oct;83(4):257-63. doi: 10.1016/j.anpedi.2014.10.032. Epub 2015 Feb 16. Spanish.

Supplemental Content

Loading ...
Support Center