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Metabolites|December 27, 2024
Reduced Intra- and Extracellular Circulating Postprandial Lysosomal Acid Lipase Activity in Patients with MASLDMonica Mischitelli, Eleonora Poggiogalle, Giulia Tozzi, et al.
Kidney International|March 21, 2016
Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cellsLaura R Rega, Elena Polishchuk, Sandro Montefusco, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron diseaseDaria Diodato, Giorgio Tasca, Daniela Verrigni, et al.
Plos One|May 25, 2016
Lysosomal Acid Lipase Activity Is Reduced Both in Cryptogenic Cirrhosis and in Cirrhosis of Known EtiologyUmberto Vespasiani-Gentilucci, Paolo Gallo, Fiorella Piemonte, et al.
Neuromuscular Disorders : NMD|February 8, 2011
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodiesHarriet P Lo, Enrico Bertini, Massimiliano Mirabella, et al.
Atherosclerosis|September 8, 2017
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variantsLivia Pisciotta, Giulia Tozzi, Lorena Travaglini, et al.
Molecular Genetics and Metabolism|September 27, 2012
EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh SyndromeDiego Martinelli, Michela Catteruccia, Fiorella Piemonte, et al.
Clinical and Translational Gastroenterology|May 29, 2020
Reduced Lysosomal Acid Lipase Activity in Blood and Platelets Is Associated With Nonalcoholic Fatty Liver DiseaseFlaminia Ferri, Monica Mischitelli, Giulia Tozzi, et al.
Atherosclerosis|April 12, 2017
Severe reduction of blood lysosomal acid lipase activity in cryptogenic cirrhosis: A nationwide multicentre cohort studyFrancesco Angelico, Stefano Ginanni Corradini, Daniele Pastori, et al.
Journal of Inherited Metabolic Disease|May 10, 2012
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patientsDenise Cassandrini, Maria Roberta Cilio, Marzia Bianchi, et al.
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