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Orphanet Journal of Rare Diseases|November 29, 2025
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithmMarco Spada, Serena Gasperini, Massimiliano Filosto, et al.Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.American Journal of Human Genetics|September 3, 2013
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyXiaowu Gai, Daniele Ghezzi, Mark A Johnson, et al.International Journal of Neonatal Screening|August 23, 2022
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National ExperienceMargherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, et al.Journal of Inherited Metabolic Disease|April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationStefan Kölker, Angeles Garcia-Cazorla, Angeles Garcia Cazorla, et al.Journal of Inherited Metabolic Disease|April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotypeStefan Kölker, Vassili Valayannopoulos, Alberto B Burlina, et al.Pageof 4