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Annalisa Sechi

University of Padua

35

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371

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Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy

2021 Molecular genetics and metabolism reports
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JCM, Vol. 9, Pages 679: Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

2020 Journal of Clinical Medicine
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Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations

2018 Journal of Inherited Metabolic Disease
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Can Tangier disease cause male infertility? A case report and an overview on genetic causes of male infertility and hormonal axis involved

2018 Molecular Genetics and Metabolism
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Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease

2017 Neuromuscular Disorders
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Profile of eliglustat tartrate in the management of Gaucher disease.

2016 Therapeutics and Clinical Risk Management
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Profile of eliglustat tartrate in the management of Gaucher disease [Corrigendum]

2016 Therapeutics and Clinical Risk Management
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Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations.

2016 Clinica Chimica Acta
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Role of LIMP-2 in the intracellular trafficking of β-Glucosidase in different human cellular models

2015 The FASEB Journal
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Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology.

2014 BMC Cardiovascular Disorders
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