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International Journal of Neonatal Screening|September 22, 2025
Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH ElevationAlessandra Vasco, Clarissa Berardo, Simona Lucchi, et al.International Journal of Neonatal Screening|May 23, 2025
Expanded Newborn Screening in Italy: The First Report of Lombardy RegionClarissa Berardo, Alessandra Vasco, Alessia Mauri, et al.Journal of Inherited Metabolic Disease|April 6, 2011
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapyRenzo Manara, Elena Priante, Marco Grimaldi, et al.Clinical Epigenetics|July 3, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutationsCatia Cavicchi, Abderrahim Oussalah, Silvia Falliano, et al.International Journal of Neonatal Screening|August 22, 2025
Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31Clarissa Berardo, Alessandra Vasco, Alessia Mauri, et al.Human Mutation|March 12, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) allelesFrancesca Bertola, Mirella Filocamo, Giorgio Casati, et al.European Journal of Human Genetics : EJHG|July 19, 2023
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathyDario Ronchi, Manuela Garbellini, Francesca Magri, et al.Annali Italiani Di Medicina Interna : Organo Ufficiale Della Societa Italiana Di Medicina Interna|February 1, 2005
[Fabry disease in Italy: first epidemiologic and collaborative study]Roberta Ricci, Mario Castorina, Mariangela Di Lillo, et al.Clinical Genetics|April 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare DiseasesCamilla Lucca, Erica Rosina, Lidia Pezzani, et al.Journal of Hepatology|May 21, 2014
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemiaMathilde Di Filippo, Philippe Moulin, Pascal Roy, et al.Pageof 4