CARACTERÍSTICAS CLÍNICAS Y MANEJO ACTUAL DEL PACIENTE ADULTO CON FENILCETONURIA (PKU) EN ESPAÑA. ESTUDIO CÓMPLICES.

Dades bàsiques

Protocol:: NUT-PKU-2018-01
EURDRACT:
NCT:
Centre:: HOSPITAL UNIVERSITARI I POLITÈCNIC LA FE
Any inici:: 2020
Any de finalització:: 2021

ESTUDIO OBSERVACIONAL

Documents

No hi ha documents

Participants

Patricia Correcher Medina

Colaborador/A
Isidro Vitoria Miñana

Investigador Principal

Grups d'Investigació

Perinatología

Leader

Máximo Vento Torres
Nutrición y Metabolopatías

Investigador Principal

Patricia Correcher Medina

Finançadors - Promotors

NUTRICIA RESEARCH BV

Resultats de l'Assaig Clínic

Publicacions en Revistes 15

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

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.

Stanescu, Sinziana; (...); O'Callaghan Gordo, Mar

Article. 10.3390/biomedicines11102861. 2023

Correction: Vitamin C and folate status in hereditary fructose intolerance.

Cano A; (...); de Las Heras J

Correction. 10.1038/s41430-023-01334-3. 2023

Descriptive study of patients with Gaucher disease type 3 in Spain and clinical response to different therapies

Giraldo, Pilar; (...); Visa-Rene, Nuria

Meeting Abstract. 10.1016/j.ymgme.2023.107843. 2024

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.

Soriano-Sexto, Alejandro; (...); Perez, Belen

Article. 10.3390/ijms232112850. 2022

Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.

Tejedor, Juan Ramon; (...); Perez, Belen

Article. 10.1002/jimd.12829. 2024

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

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

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

New variants expand the neurological phenotype of COQ7 deficiency.

Fabra, Maria Alcazar; (...); Santos-Ocana, Carlos

Article. 10.1002/jimd.12776. 2024

Nutritional Management of Patients with Fatty Acid Oxidation Disorders.

Pena-Quintana, Luis, Correcher-Medina, Patricia

Article. 10.3390/nu16162707. 2024

Nutritional status in patients with protein metabolism disorders. Case-control study.

Robredo Garcia, Isidro; (...); Martinez Costa, Cecilia

Article. 10.1016/j.anpede.2024.10.012. 2024

Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.

Serrano-Gonzalo, Irene; (...); Giraldo, Pilar

Article. 10.1186/s13023-023-02939-4. 2023

Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance

Cano, A; (...); de las Heras, J

Article. 10.3390/jcm10132932. 2021

Vitamin C and folate status in hereditary fructose intolerance

Cano, Ainara; (...); de las Heras, Javier

Article. 10.1038/s41430-022-01178-3. 2022