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Orphanet Journal of Rare Diseases|June 26, 2026
Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrateMarco Spada, Francesco PortaEuropean Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 18, 2020
Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjectsFrancesco Porta, Alberto Ponzone, Marco SpadaNeurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 10, 2023
Restless legs syndrome in DNAJC12 deficiencyFrancesco Porta, Alessandro Neirotti, Marco SpadaPediatrics|July 7, 2017
Early Screening for Tetrahydrobiopterin Responsiveness in PhenylketonuriaFrancesco Porta, Marco Spada, Alberto PonzoneMetabolic Brain Disease|July 15, 2020
Neonatal phenylalanine wash-out in phenylketonuriaFrancesco Porta, Alberto Ponzone, Marco SpadaThe Journal of Pediatrics|October 31, 2015
Target Prolactin Range in Treatment of Tetrahydrobiopterin DeficiencyFrancesco Porta, Alberto Ponzone, Marco SpadaJournal of Psychiatric Research|October 31, 2020
Adult attention deficit hyperactivity disorder in patients with fibromyalgia syndrome: Assessment and disabilitiesStefano Pallanti, Francesco Porta, Luana SalernoEuropean Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 25, 2015
Short prolactin profile for monitoring treatment in BH4 deficiencyFrancesco Porta, Alberto Ponzone, Marco SpadaEuropean Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 27, 2016
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiencyFrancesco Porta, Alberto Ponzone, Marco SpadaJournal of Pediatric Endocrinology & Metabolism : JPEM|February 13, 2021
Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuriaFrancesco Porta, Sara Giorda, Alberto Ponzone, et al.Pageof 11