Clarissa Berardo
Clarissa Berardo
1Pediatric Research Center “Romeo ed Enrica Invernizzi”, Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy; clarissa.berardo@unimi.it (C.B.); alessia.mauri@unimi.it (A.M.); stephana.carelli@guest.unimi.it (S.C.); gianvincenzo.zuccotti@unimi.it (G.Z.)
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
1,2,†,
Alessandra Vasco
Alessandra Vasco
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
2,†,
Alessia Mauri
Alessia Mauri
1Pediatric Research Center “Romeo ed Enrica Invernizzi”, Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy; clarissa.berardo@unimi.it (C.B.); alessia.mauri@unimi.it (A.M.); stephana.carelli@guest.unimi.it (S.C.); gianvincenzo.zuccotti@unimi.it (G.Z.)
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
1,2,†,
Simona Lucchi
Simona Lucchi
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
2,
Laura Cappelletti
Laura Cappelletti
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
2,
Laura Saielli
Laura Saielli
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
2,
Manuela Rizzetto
Manuela Rizzetto
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
2,
Davide Biganzoli
Davide Biganzoli
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
2,
Cristina Montrasio
Cristina Montrasio
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
2,
Diana Postorivo
Diana Postorivo
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
2,
Michela Perrone Donnorso
Michela Perrone Donnorso
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
2,‡,
Elisa Pratiffi
Elisa Pratiffi
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
2,
Andrea Meta
Andrea Meta
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
2,
Stephana Carelli
Stephana Carelli
1Pediatric Research Center “Romeo ed Enrica Invernizzi”, Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy; clarissa.berardo@unimi.it (C.B.); alessia.mauri@unimi.it (A.M.); stephana.carelli@guest.unimi.it (S.C.); gianvincenzo.zuccotti@unimi.it (G.Z.)
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
1,2,
Alessandro Amorosi
Alessandro Amorosi
3Welfare General Directorate, Regione Lombardia, Palazzo Lombardia, Piazza Città di Lombardia, 1, 20124 Milan, Italy; alessandro_amorosi@regione.lombardia.it
3,
Sabrina Paci
Sabrina Paci
4Clinical Department of Pediatrics, ASST Santi Paolo e Carlo Hospital, University of Milan, 20142 Milan, Italy; sabrina.paci@asst-santipaolocarlo.it (S.P.); graziella.cefalo@asst-santipaolocarlo.it (G.C.); giuseppe.banderali@asst-santipaolocarlo.it (G.B.)
4,
Graziella Cefalo
Graziella Cefalo
4Clinical Department of Pediatrics, ASST Santi Paolo e Carlo Hospital, University of Milan, 20142 Milan, Italy; sabrina.paci@asst-santipaolocarlo.it (S.P.); graziella.cefalo@asst-santipaolocarlo.it (G.C.); giuseppe.banderali@asst-santipaolocarlo.it (G.B.)
4,
Francesca Furlan
Francesca Furlan
5Pediatric Intensive Care Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy; francesca.furlan@policlinico.mi.it (F.F.); francesca.menni@policlinico.mi.it (F.M.)
5,
Francesca Menni
Francesca Menni
5Pediatric Intensive Care Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy; francesca.furlan@policlinico.mi.it (F.F.); francesca.menni@policlinico.mi.it (F.M.)
5,
Serena Gasperini
Serena Gasperini
6Pediatric Rare Diseases Unit, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy; serena.gasperini@irccs-sangerardo.it (S.G.); viola.crescitelli@irccs-sangerardo.it (V.C.)
6,
Viola Crescitelli
Viola Crescitelli
6Pediatric Rare Diseases Unit, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy; serena.gasperini@irccs-sangerardo.it (S.G.); viola.crescitelli@irccs-sangerardo.it (V.C.)
6,
Giuseppe Banderali
Giuseppe Banderali
4Clinical Department of Pediatrics, ASST Santi Paolo e Carlo Hospital, University of Milan, 20142 Milan, Italy; sabrina.paci@asst-santipaolocarlo.it (S.P.); graziella.cefalo@asst-santipaolocarlo.it (G.C.); giuseppe.banderali@asst-santipaolocarlo.it (G.B.)
4,
Gianvincenzo Zuccotti
Gianvincenzo Zuccotti
1Pediatric Research Center “Romeo ed Enrica Invernizzi”, Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy; clarissa.berardo@unimi.it (C.B.); alessia.mauri@unimi.it (A.M.); stephana.carelli@guest.unimi.it (S.C.); gianvincenzo.zuccotti@unimi.it (G.Z.)
7Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy
1,7,
Luisella Alberti
Luisella Alberti
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
2,
Cristina Cereda
Cristina Cereda
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
2,*
1Pediatric Research Center “Romeo ed Enrica Invernizzi”, Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy; clarissa.berardo@unimi.it (C.B.); alessia.mauri@unimi.it (A.M.); stephana.carelli@guest.unimi.it (S.C.); gianvincenzo.zuccotti@unimi.it (G.Z.)
2Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy; alessandra.vasco@asst-fbf-sacco.it (A.V.); simona.lucchi@asst-fbf-sacco.it (S.L.); cappelletti.laura@asst-fbf-sacco.it (L.C.); laura.saielli@asst-fbf-sacco.it (L.S.); manuela.rizzetto@asst-fbf-sacco.it (M.R.); davide.biganzoli@unimi.it (D.B.); cristina.montrasio@asst-fbf-sacco.it (C.M.); diana.postorivo@asst-fbf-sacco.it (D.P.); michelaperronedonnorso@gaslini.org (M.P.D.); elisa.pratiffi@asst-fbf-sacco.it (E.P.); andrea.meta@asst-fbf-sacco.it (A.M.); luisella.alberti@asst-fbf-sacco.it (L.A.)
3Welfare General Directorate, Regione Lombardia, Palazzo Lombardia, Piazza Città di Lombardia, 1, 20124 Milan, Italy; alessandro_amorosi@regione.lombardia.it
4Clinical Department of Pediatrics, ASST Santi Paolo e Carlo Hospital, University of Milan, 20142 Milan, Italy; sabrina.paci@asst-santipaolocarlo.it (S.P.); graziella.cefalo@asst-santipaolocarlo.it (G.C.); giuseppe.banderali@asst-santipaolocarlo.it (G.B.)
5Pediatric Intensive Care Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy; francesca.furlan@policlinico.mi.it (F.F.); francesca.menni@policlinico.mi.it (F.M.)
6Pediatric Rare Diseases Unit, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy; serena.gasperini@irccs-sangerardo.it (S.G.); viola.crescitelli@irccs-sangerardo.it (V.C.)
7Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy
*Correspondence: cristina.cereda@asst-fbf-sacco.it; Tel.: +39-347-081-1404
†These authors contributed equally to this work.
‡Current Address: Pediatric Clinic, Endocrinology, Laboratory for the Study of Inborn Errors of Metabolism, Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16100 Genova, Italy.
Received 2025 Jun 25; Accepted 2025 Jun 26; Collection date 2025 Sep.
© 2025 by the authors.
Published by MDPI on behalf of the International Society for Neonatal Screening. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).