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Clinical Genetics|July 18, 2024
The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identifiedStefania Zampieri, Silvia Cattarossi, Lorenzo Ferri, et al.
Molecular Genetics and Metabolism|November 2, 2010
Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination eventMonica Cozar, Bruno Bembi, Silvia Dominissini, et al.
Molecular Genetics and Metabolism Reports|October 18, 2021
Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancyAnnalisa Sechi, Alessandro Vit, Claudio Avellini, et al.
JIMD Reports|February 23, 2013
Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patientsLaura Deroma, Annalisa Sechi, Andrea Dardis, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 29, 2015
Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular modelsErika Malini, Stefania Zampieri, Marta Deganuto, et al.
European Journal of Human Genetics : EJHG|December 24, 2010
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypesStefania Zampieri, Emanuele Buratti, Silvia Dominissini, et al.
NPJ Genomic Medicine|August 11, 2023
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicineMacarena Las Heras, Benjamín Szenfeld, Rami A Ballout, et al.
Annual Review of Genomics and Human Genetics|September 4, 2014
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of diseaseFrances M Platt, Christopher Wassif, Alexandria Colaco, et al.
Molecular Genetics and Metabolism|December 5, 2003
Lack of mutations in CYP2D6 and CYP27 in patients with apparent deficiency of vitamin D 25-hydroxylaseChin Jia Lin, Andrea Dardis, Sujeewa D Wijesuriya, et al.
Journal of Cellular and Molecular Medicine|September 9, 2008
Oxidative stress in NPC1 deficient cells: protective effect of allopregnanoloneStefania Zampieri, Synthia H Mellon, Terry D Butters, et al.
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