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Preprint ARTICLE | doi:10.20944/preprints202311.0727.v1

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy

Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P Burlina, Alberto B Burlina

Subject: Medicine And Pharmacology, Pediatrics, Perinatology And Child Health Keywords: newborn screening; lysosomal storage disease; Pompe disease; Mucopolysaccharidosis type I; Gaucher disease; Fabry disease; second tier test; tandem mass spectrometry; glycosaminoglycans; lysosphingosine.

Online: 10 November 2023 (16:19:05 CET)

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Preprint ARTICLE | doi:10.20944/preprints201908.0069.v1

ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

Luis Vázquez-Fonseca, Jochen Schäfer, Ignacio Navas-Enamorado, Carlos Santos-Ocaña, Juan D. Hernández-Camacho, Ignacio Guerra, María V. Cascajo, Ana Sánchez-Cuesta, Zoltan Horvath, Emilio Siendones, Cristina Jou, Mercedes Casado, Purificación Gutierrez-Rios, Gloria Brea-Calvo, Guillermo López-Lluch, Daniel J.M. Fernández-Ayala, Ana B. Cortés-Rodríguez, Juan C. Rodríguez-Aguilera, Cristiane Matté, Antonia Ribes, Sandra Y. Prieto-Soler, Eduardo Dominguez-del-Toro, Andrea di Francesco, Miguel A. Aon, Michel Bernier, Leonardo Salviati, Rafael Artuch, Rafael de Cabo, Sandra Jackson, Plácido Navas

Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: coenzyme Q deficiency; mitochondrial disease; respiratory chain; fatty acids; myopathy; ADCK2

Online: 6 August 2019 (07:52:35 CEST)

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