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Clinical Biochemistry|February 28, 2017
Platelet count may impact on lysosomal acid lipase activity determination in dried blood spotUmberto Vespasiani-Gentilucci, Jessica D'Amico, Antonio De Vincentis, et al.
Journal of Clinical Medicine|May 10, 2019
Lysosomal Acid Lipase as a Molecular Target of the Very Low Carbohydrate Ketogenic Diet in Morbidly Obese Patients: The Potential Effects on Liver Steatosis and Cardiovascular Risk FactorsStefano Ministrini, Lucia Calzini, Elisa Nulli Migliola, et al.
The Journal of Clinical Investigation|January 15, 2004
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transportFatima Ferreirinha, Angelo Quattrini, Marinella Pirozzi, et al.
Internal and Emergency Medicine|September 14, 2017
Spleen dimensions are inversely associated with lysosomal acid lipase activity in patients with non-alcoholic fatty liver diseaseLicia Polimeni, Daniele Pastori, Francesco Baratta, et al.
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.
Molecular Genetics and Metabolism|April 16, 2013
Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathiesAnna Pastore, Sara Petrillo, Giulia Tozzi, et al.
Neuromuscular Disorders : NMD|July 25, 2012
Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic studyMarianna Ciccolella, Michela Catteruccia, Sabina Benedetti, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 30, 2011
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in childrenAlessandra Terracciano, Florence Renaldo, Ginevra Zanni, et al.
Biochemical and Biophysical Research Communications|October 27, 2011
Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathyMarzia Bianchi, Teresa Rizza, Daniela Verrigni, 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.
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