About the Authors
- Stefania Zampieri
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Affiliation Regional Coordinator Center for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy
- Silvia Cattarossi
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Affiliation Regional Coordinator Center for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy
- Ana Maria Oller Ramirez
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Affiliation Centro de Estudio de las Metabolopatias Congénitas, CEMECO, University of Córdoba, Córdoba, Argentine
- Camillo Rosano
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Affiliation Patologia Molecolare Integrata – A.O.U. IRCSS San Martino – IST, Istituto Nazionale per la Ricerca sul Cancro, Genova, Italy
- Charles Marques Lourenco
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Affiliation Medical Genetics Service, Clinics Hospital of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil
- Nadia Passon
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Affiliation Dipartimento di Scienze Mediche e Biologiche, Università di Udine, Udine, Italy
- Isabella Moroni
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Affiliation Department of Child Neurology, Fondazione Istituto Neurologico Besta, Milan, Italy
- Graziella Uziel
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Affiliation Department of Child Neurology, Fondazione Istituto Neurologico Besta, Milan, Italy
- Antonella Pettinari
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Affiliation Laboratorio di Genetica Medica, Clinica Pediatrica, Ospedali Riuniti Ancona, Ancona, Italy
- Franco Stanzial
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Affiliation Servizio di Consulenza Genetica, Centro Provinciale di Coordinamento della Rete delle Malattie Rare, Azienda Sanitaria dell’Alto-Adige, Bolzano, Italy
- Raquel Dodelson de Kremer
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Affiliation Centro de Estudio de las Metabolopatias Congénitas, CEMECO, University of Córdoba, Córdoba, Argentine
- Nydia Beatriz Azar
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Affiliation Centro de Estudio de las Metabolopatias Congénitas, CEMECO, University of Córdoba, Córdoba, Argentine
- Filiz Hazan
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Affiliation Medical Faculty, Genetic Department, Izmir, Turkey
- Mirella Filocamo
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Affiliation U.O.S.D. Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy
- Bruno Bembi
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Affiliation Regional Coordinator Center for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy
- Andrea Dardis
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* E-mail: dardis.andrea@aoud.sanita.fvg.it
Affiliation Regional Coordinator Center for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy
Competing Interests
The authors have declared that no competing interests exist.
Author Contributions
Conceived and designed the experiments: AD SZ. Performed the experiments: SZ SC AMOR NBA CML. Analyzed the data: AD MF IM GU BB. Contributed reagents/materials/analysis tools: NP AP FS RDK FH. Wrote the paper: AD BB MF. Performed the 3D structural analysis: CR.