Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden

Molecular Genetics and Metabolism 2026

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Authors: Sabrina Malvagia, Marta Daniotti, Rodolfo Tonin, Lorenzo Ferri, Daniela Ombrone, G Forni, Emanuela Scolamiero, Silvia Funghini, Marina Rinaldi, Silvia Falliano, Antonella Paoli, Massimo Mura
+9 more Francesca Raspini, S. Poggiali, Giusi Scaturro, Michele Sacchini, Maria Alice Donati, Elena Procopio, Renzo Guerrini, Amelia Morrone, Giancarlo la Marca
DOI: 10.1016/j.ymgme.2026.110114
Cited by: 3
References: 41

Fields of Study & Subjects

Sexual Differentiation and Disorders Genetic Syndromes and Imprinting Metabolism and Genetic Disorders

Publication details

Journal / source
Molecular Genetics and Metabolism
Publisher
Elsevier BV
Volume
148
Issue
2
Pages
110114–110114
Publication date
6 April 2026
Language
EN