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Clinica Chimica Acta; International Journal of Clinical Chemistry|March 15, 2018
The urinary organic acids profile in single large-scale mitochondrial DNA deletion disordersMichela Semeraro, Sara Boenzi, Rosalba Carrozzo, 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.
Molecular Genetics and Metabolism|March 13, 2022
The diagnostic challenge of mild citrulline elevation at newborn screeningBarbara Siri, Giorgia Olivieri, Antonio Angeloni, et al.
Journal of Inherited Metabolic Disease|July 3, 2016
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiencyCarlo Dionisi-Vici, Eyal Shteyer, Marcello Niceta, et al.
JIMD Reports|March 9, 2026
Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 21, 2017
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiencyDariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, et al.
Frontiers in Genetics|December 26, 2024
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN <i>in-silico</i> structural analysisDavide Vecchio, Marina Macchiaiolo, Michaela V Gonfiantini, et al.
Journal of Inherited Metabolic Disease|July 18, 2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH geneLaura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, et al.
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