Focus on enzyme replacement therapy in PKU patients


Guest Editor: Alberto Burlina, MD Ph.D

Professor of Pediatrics, Director of Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital Padova, Padova, Italy

JIM 2025; 2 (Suppl 1): e951
DOI: 10.61012_20257_951

Why re-think dietary treatment in PKU?

Rovelli V.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy
valentina.rovelli@asst-santipaolocarlo.it Close
ORCID , Zuvadelli J.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy Close
ORCID , Re Dionigi A.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy Close
ORCID , Finizii A.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy Close
, Selmi R.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy Close
, Paci S.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy Close
ORCID , Cefalo G.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy Close
ORCID , Banderali G.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy Close

JIM 2025; 2 (Suppl 1): e954
DOI: 10.61012_20257_954

Assessment of executive functions, adaptive skills, emotional and behavioral outcomes from pediatric age to adulthood in patients with PKU: a systematic review

Gaiga G.
Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy Close
ORCID , Carretta J.
Neurology Unit, St. Bassiano Hospital, Bassano del Grappa, Italy Close
ORCID , Cazzorla C.
Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy
chiara.cazzorla@aopd.veneto.it Close
ORCID

JIM 2025; 2 (Suppl 1): e956
DOI: 10.61012_20257_956

Diet in patients with phenylketonuria treated with pegvaliase: a narrative review on the state-of-the-art and challenges

Stecchi M.
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy Close
ORCID , Sbrega F.
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy Close
ORCID , Baldo C.
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy Close
ORCID , Santoni M.
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy Close
ORCID , Mita D.
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy Close
ORCID , Brodosi L.
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy
lucia.brodosi2@unibo.it Close
ORCID

JIM 2025; 2 (Suppl 1): e958
DOI: 10.61012_20256_958

Adult phenylketonuria: transition management and follow-up

Verrecchia E.
Department of Aging, Orthopaedic and Rheumatological Sciences, A. Gemelli Policlinic Foundation IRCCS, Rome, Italy Close
ORCID , Sicignano L. L.
Department of Aging, Orthopaedic and Rheumatological Sciences, A. Gemelli Policlinic Foundation IRCCS, Rome, Italy Close
ORCID , Siri B.
Division of Metabolic Diseases and Hepatology, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy Close
ORCID , Taurisano R.
Division of Metabolic Diseases and Hepatology, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy Close
ORCID , Gagliardo C. M.
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), Università degli Studi di Palermo, Palermo, Italy Close
ORCID , Giammanco A.
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), Università degli Studi di Palermo, Palermo, Italy Close
ORCID , Noto D.
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), Università degli Studi di Palermo, Palermo, Italy
notoddd@gmail.com Close
ORCID