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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 14, 2021
CDKL5 deficiency disorder in males: Five new variants and review of the literatureBarbara Siri, Costanza Varesio, Elena Freri, et al.Behavioural Neurology|September 16, 2024
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients' Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi ConsensusCarlotta Spagnoli, Roberta Battini, Filippo Manti, et al.Clinical Nutrition (Edinburgh, Scotland)|March 31, 2023
A food pyramid for adult patients with phenylketonuria and a systematic review on the current evidences regarding the optimal dietary treatment of adult patients with PKUMariangela Rondanelli, Francesco Porta, Clara Gasparri, et al.Annals of the Rheumatic Diseases|May 17, 2012
Lung ultrasound for the screening of interstitial lung disease in very early systemic sclerosisTatiana Barskova, Luna Gargani, Serena Guiducci, et al.JIMD Reports|June 24, 2017
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and HypoceruloplasminemiaPier Luigi Calvo, Marco Spada, Ivana Rabbone, et al.Reumatismo|June 26, 2025
Development of an algorithm for optimizing the implementation of ultrasound in the diagnostic workflow in clinical practice: preliminary phase of the RADIAL study, a project of the US Study Group of the Italian Society for RheumatologyGarifallia Sakellariou, Antonella Adinolfi, Joao Madruga Dias, et al.Clinical and Experimental Rheumatology|September 21, 2013
Muscle shortening manoeuvre reduces pain and functional impairment in shoulder impingement syndrome: clinical and ultrasonographic evidenceDaniela Melchiorre, Marco Maresca, Riccardo Bracci, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 27, 2025
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 DeficiencyFabio Bruschi, Ylenia Vaia, Clara E Antonello, et al.Journal of Inherited Metabolic Disease|February 13, 2021
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?Sara Tucci, Christine Wagner, Sarah C Grünert, et al.Molecular Genetics and Metabolism|June 14, 2018
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stabilityGiovanna Menduti, Elisa Biamino, Roberta Vittorini, et al.Pageof 11