Publications by authors named "J Campistol-Plana"
Article Synopsis
- Phenylketonuria (PKU) is a genetic condition where too much phenylalanine (Phe) builds up in the body, which can be harmful to the brain.
- The APHENITY study tested a new medicine called synthetic sepiapterin to see if it could safely lower Phe levels in patients with PKU.
- The study involved 187 participants from 34 locations around the world and lasted from September 2021 to April 2023, with results showing how effective the treatment was over a six-week period.
haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals.
View Article and Find Full Text PDFEffect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods.
Nutrients
August 2023
In inborn errors of intermediate protein metabolism (IEM), the effect of special low-protein foods (SLPFs) on dietary intake has been scarcely studied. The aim of this study was to compare the nutritional profile of SLPFs with usual foods and to assess whether their intake determines the dietary pattern and affects the plasma biochemical profile in children with IEMs with different protein restrictions. A database with the nutritional composition of 250 SLPFs was created.
View Article and Find Full Text PDFObjetive: Analyze pre-surgical evaluation modalities, surgical failures, long-term results of surgery and neurocognitive outcome in children with Low-grade Epilepsy Associated brain Tumors (LEAT).
Methods: Retrospective observational study of 37 children who underwent epilepsy surgery, with a minimum follow-up of 12 months. At time of surgery, pharmaco-sensitivity (Group 1; n = 8) and drug-resistance (Group 2; n = 29), were considered.
The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation.
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