Portal de investigación
ESTUDIO DE RESULTADOS DE HUNTER: REGISTRO OBSERVACIONAL, INTERNACIONAL Y MULTICÉNTRICO A LARGO PLAZO DE PACIENTES CON SÍNDROME DE HUNTER (MUCOPOLISACARIDOSIS DE TIPO II, MPS II).
Datos básicos
- Protocolo:
- SHI-IDU-2011-01
- EUDRACT:
- NCT:
- Centro:
- HOSPITAL UNIVERSITARI I POLITÈCNIC LA FE
- Año de incio:
- 2014
- Año de finalización:
- 2023
Documentos
- No hay documentos
Participantes
Financiadores - Promotores
Resultados del Ensayo Clínico
[Liver cell therapy in the treatment of inborn errors of metabolism in children].
Abstract of Published Item. 10.1016/j.anpedi.2013.05.018. 2013
6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype
Aldamiz-Echevarria, L; (...); Sanchez-Valverde, F
Article. 10.1016/j.ymgme.2015.03.007. 2015
A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A.
Lane J; (...); NIAID Center for HIV
Article. 10.1093/hmg/ddt033. 2013
A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to lgLON5: a case series, characterisation of the antigen, and post-mortem study
Sabater L; (...); Graus F
Article. 10.1016/S1474-4421(14)70051-1. 2014
Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients
Aldamiz-Echevarria, L; (...); Sanchez-Valverde, F
Article. 10.1016/j.clnu.2013.09.011. 2014
Antibodies to MOG and AQP4 in adults with neuromyelitis optica and suspected limited forms of the disease
Höftberger R; (...); Saiz A
Article. 10.1177/1352458514555785. 2015
Audiological findings in children with mucopolysaccharidoses type i-iv.
Vargas-Gamarra, MF; (...); Alamar-Velazquez, A
Article. 10.1016/j.otorri.2016.11.004. 2017
Biomonitoring of polychlorinated dibenzo-p-dioxins (PCDDs), polychlorinated dibenzofurans (PCDFs) and dioxin-like polychlorinated biphenyls (dl-PCBs) in human milk: Exposure and risk assessment for lactating mothers and breastfed children from Spain
Hernandez, CS; (...); BETTERMILK
Article. 10.1016/j.scitotenv.2020.140710. 2020
Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas.
Vitoria-Miñana I; (...); Correcher-Medina P
Article. 10.3390/nu15163566. 2023
Carbohydrate status in patients with phenylketonuria
Couce, ML; (...); Leis, R
Article. 10.1186/s13023-018-0847-x. 2018
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.
Vitoria, I; (...); Merinero, B
Article. 10.1007/8904_2014_382. 2015
Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy.
Vitoria I; (...); Rubio V
Article. 10.1016/j.ymgme.2013.06.011. 2013
Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome
Dalmau Serra J; (...); Cortell Aznar I
Article. 10.1016/j.medcli.2015.06.015. 2015
Correction: Vitamin C and folate status in hereditary fructose intolerance.
Cano A; (...); de Las Heras J
Correction. 10.1038/s41430-023-01334-3. 2023
Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity
Vitoria, I; (...); Dalmau, J
Article. 10.1016/j.anpedi.2013.05.035. 2014
DEVELOPMENT AND VALIDATION OF A MCDA FRAMEWORK FOR EVALUATION AND DECISION-MAKING OF ORPHAN DRUGS IN SPAIN
Poveda, J. L.; (...); Vitoria, I
Meeting Abstract. 2019
Development and validation of an MCDA framework for evaluation and decision-making of orphan drugs in Spain
Badia, X; (...); Poved, JL
Article. 10.1080/21678707.2019.1652163. 2019
Diagnosis and treatment of familial hypercholesterolemia in Spain: Consensus document
Mata P; (...); otros colaboradores
Article. 10.1016/j.aprim.2013.12.015. 2015
Dietary practices in isovaleric acidemia: A European survey.
Pinto, A; (...); MacDonald, A
Article. 10.1016/j.ymgmr.2017.02.001. 2017
Dietary practices in methylmalonic acidaemia: a European survey.
Pinto A; (...); MacDonald A
Article. 10.1515/jpem-2019-0277. 2020
Dietary practices in propionic acidemia: A European survey.
Daly, A; (...); MacDonald, A
Article. 10.1016/j.ymgmr.2017.09.002. 2017
Early feeding practices in infants with phenylketonuria across Europe
Pinto, A; (...); MacDonald, A
Article. 10.1016/j.ymgmr.2018.07.008. 2018
Encephalitis with refractory seizures, status epilepticus, and antibodies to the GABA(A) receptor: a case series, characterisation of the antigen, and analysis of the effects of antibodies
Petit-Pedrol M; (...); Dalmau J
Article. 10.1016/S1474-4422(13)70299-0. 2014
Evaluation of diet and nutrient intake in children under three years old. ALSALMA pilot study
Dalmau J; (...); Soler B
Article. 10.1016/j.anpedi.2013.10.007. 2014
Gaucher disease: enzyme replacement treatment initiated at pediatric age; 20-year experience
Vitoria Minana I, Dalmau Serra J
Letter. 10.1016/j.anpedi.2015.08.016. 2016
How strict is galactose restriction in adults with galactosaemia? International practice
Adam, S; (...); Zweers, H
Article. 10.1016/j.ymgme.2015.03.008. 2015
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Soriano-Sexto, Alejandro; (...); Perez, Belen
Article. 10.3390/ijms232112850. 2022
Implementation and results of a risk-sharing scheme for enzyme replacement therapy in lysosomal storage diseases
Edo-Solsona, MD, Vitoria-Minana, I, Poveda-Andres, JL
Article. 10.7399/fh.11262. 2020
Improper Use of a Plant-Based Vitamin C-Deficient Beverage Causes Scurvy in an Infant
Vitoria I; (...); Dalmau J
Article. 10.1542/peds.2015-2781. 2016
La introduccion del gluten en la dieta del lactante. Recomendaciones de un grupo de expertos.
Ribes Koninckx C; (...); Polanco Allue I
Article. 10.1016/j.anpedi.2015.03.009. 2015
Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia.
Vitoria, Isidro; (...); Garcia-Peris, Monica
Article. 10.3390/nu15030594. 2023
Late-onset anti-NMDA receptor encephalitis.
Titulaer MJ; (...); Dalmau J
Article. 10.1212/WNL.0b013e3182a4a49c. 2013
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
Alcaide, Patricia; (...); Perez, Belen
Article. 10.3390/jcm11102933. 2022
Micronutrient in hyperphenylalaninemia.
Crujeiras V; (...); Couce ML
Article. 10.1016/j.dib.2015.07.026. 2015
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria
Aldamiz-Echevarria, L; (...); Couce, ML
Article. 10.1038/jhg.2016.38. 2016
New insights in the TRAZELGA project for the adult type 1 Gaucher disease patients treated with eliglustat follow-up
Gonzalo, IS; (...); Castellano, PG
Meeting Abstract. 10.1016/j.ymgme.2020.12.239. 2021
Newly validated biomarkers of brain damage may shed light into the role of oxidative stress in the pathophysiology of neurocognitive impairment in dietary restricted phenylketonuria patients
Rausell, Dolores; (...); Chafer-Pericas, Consuelo
Review. 10.1038/s41390-018-0202-x. 2019
Pediatric anti-N-methyl-D-aspartate receptor encephalitis-clinical analysis and novel findings in a series of 20 patients.
Armangue T; (...); Spanish Anti-N-methyl-D-Aspartate Receptor (NMDAR) Encephalitis Work Group
Article. 10.1016/j.jpeds.2012.10.011. 2013
Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach
Aguiar, A; (...); Zweers, H
Article. 10.1016/j.ymgme.2015.03.006. 2015
Prebiotic effect during the first year of life in healthy infants fed formula containing GOS as the only prebiotic: a multicentre, randomised, double-blind and placebo-controlled trial
Sierra, C; (...); Roman, E
Article. 10.1007/s00394-014-0689-9. 2015
Quantitative analysis of nutrient intake in children under 3 years old. ALSALMA study
Dalmau J; (...); Soler B
Article. 10.1016/j.anpedi.2014.09.017. 2015
Recomendaciones nutricionales para el nino deportista.
Sanchez-Valverde Visus F; (...); Comite de Nutricion de la Asociacion Espanola de Pediatria
Abstract of Published Item. 10.1016/j.anpedi.2013.08.007. 2014
Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU (vol 109, pg 331, 2013)
Aldamiz-Echevarria L; (...); Sanchez-Valverde F
Correction. 10.1016/j.ymgme.2015.01.010. 2015
The role of attentional biases to appetitive stimuli in childhood overweight
Rojo-Bofill, LM; (...); Garcia-Blanco, A
Article. 10.1016/j.jecp.2019.04.014. 2019
Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance
Cano, A; (...); de las Heras, J
Article. 10.3390/jcm10132932. 2021
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
Martín-Hernández E; (...); Pérez-Cerdá C
Article. 10.1186/s13023-014-0187-4. 2014
Vitamin and mineral status in patients with hyperphenylalaninemia
Crujeiras V; (...); Couce ML
Article. 10.1016/j.ymgme.2015.06.010. 2015
Vitamin C and folate status in hereditary fructose intolerance
Cano, Ainara; (...); de las Heras, Javier
Article. 10.1038/s41430-022-01178-3. 2022
Waning protection of influenza vaccination during four influenza seasons, 2011/2012 to 2014/2015
Puig-Barbera, J.; (...); Valencia Hop Network Study
Article. 10.1016/j.vaccine.2017.09.035. 2017
Water for infant bottles and pathogenic parasites
Vitoria-Minana, I; (...); Otero-Reigada, C
Letter. 10.1016/j.eimc.2013.09.022. 2014