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Journal of Medical Genetics|December 18, 2012
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutationsMarianna Ciccolella, Stefania Corti, Michela Catteruccia, et al.American Journal of Medical Genetics. Part A|November 16, 2019
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosisAnwar Baban, Rachele Adorisio, Bernadette Corica, et al.International Journal of Molecular Sciences|May 7, 2025
Integrating Machine Learning and Follow-Up Variables to Improve Early Detection of Hepatocellular Carcinoma in Tyrosinemia Type 1: A Multicenter StudyKaren Fuenzalida, María Jesús Leal-Witt, Alejandro Acevedo, et al.Journal of Inherited Metabolic Disease|July 19, 2020
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemiaEvelina Maines, Giulio Catesini, Sara Boenzi, et al.Journal of Inherited Metabolic Disease|June 1, 2006
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduriaGabriella Di Rosa, Federica Deodato, Ference J Loupatty, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|January 7, 2023
Organic acidurias in Egyptian children: The urge for high-risk screeningDina A Mehaney, Zeinab S Seliem, Laila A Selim, et al.Frontiers in Genetics|January 19, 2024
Exploiting <i>in silico</i> structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case studyDario Cocciadiferro, Tommaso Mazza, Davide Vecchio, et al.International Journal of Environmental Research and Public Health|July 9, 2022
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in ItalyDaniela Semeraro, Sara Verrocchio, Giulia Di Dalmazi, et al.Mitochondrion|September 25, 2014
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2Rosalba Carrozzo, Alessandra Torraco, Giuseppe Fiermonte, et al.Journal of Inherited Metabolic Disease|May 27, 2023
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemiaIrini Manoli, Abigael Gebremariam, Samantha McCoy, et al.Pageof 5