Výsledky vyhledávání - "Laura Rubert"

Akademický článek

Bone disease in early detected Gaucher Type I disease: A case report

Autor: Vincenza Gragnaniello, Alessandro P. Burlina, Renzo Manara, Chiara Cazzorla, Laura Rubert, Daniela Gueraldi, Ermanno Toniolli, Emilio Quaia, Alberto B. Burlina

Publikováno v: JIMD Reports, Vol 63, Iss 5, Pp 414-419 (2022)

Abstract Gaucher disease (GD) is a lysosomal disorder characterized by the storage of glucosylceramide in macrophages (“Gaucher cells”), particularly in the spleen, liver, and bone marrow. The most common phenotype, GD type 1, usually presents wi

Externí odkaz: https://doaj.org/article/559bfebfaf6a49b09caec0f0795cb268

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Akademický článek

A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature

Autor: Vincenza Gragnaniello, Silvia Carraro, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Pamela Massa, Stefania Zanconato, Alberto B. Burlina

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100878- (2022)

Mucopolysaccharidosis type II (MPS II) is a multisystemic lysosomal storage disorder caused by deficiency of the iduronate 2-sulfatase enzyme. Currently, enzyme replacement therapy (ERT) with recombinant idursulfase is the main treatment available to

Externí odkaz: https://doaj.org/article/2de6df5a8c154ab3b258ec1e79885e6c

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Akademický článek

Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement

Autor: Matteo Paoletti, Anna Pichiecchio, Giovanna Stefania Colafati, Giorgio Conte, Federica Deodato, Serena Gasperini, Francesca Menni, Francesca Furlan, Laura Rubert, Fabio Maria Triulzi, Claudia Cinnante

Publikováno v: Frontiers in Neurology, Vol 11 (2020)

White matter (WM) abnormalities and ventricular enlargement in brain MRI are well-known features in infantile-onset Pompe disease (IOPD) in the era of enzyme replacement therapy (ERT). In this multicentric observational retrospective study, we report

Externí odkaz: https://doaj.org/article/29bd8cd004034c99adb89be849f766b3

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Akademický článek

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

Autor: Vincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, Antonella Giuliani, Leonardo Salviati, Giovanni Duro, Chiara Cazzorla, Laura Rubert, Evelina Maines, Dominique P Germain, Alberto B Burlina

Publikováno v: Biomolecules, Vol 11, Iss 7, p 951 (2021)

Fabry disease (FD) is a progressive multisystemic lysosomal storage disease. Early diagnosis by newborn screening (NBS) may allow for timely treatment, thus preventing future irreversible organ damage. We present the results of 5.5 years of NBS for F

Externí odkaz: https://doaj.org/article/4e819e346de74879a1a19db4c2f75def

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Akademický článek

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature

Autor: Vincenza Gragnaniello, Daniela Gueraldi, Laura Rubert, Francesca Manzoni, Chiara Cazzorla, Antonella Giuliani, Giulia Polo, Leonardo Salviati, Alberto Burlina

Publikováno v: International Journal of Neonatal Screening, Vol 6, Iss 4, p 85 (2020)

Mucopolysaccharidosis type I (MPS I) is a progressive lysosomal storage disease, with neurological and visceral involvement, in which early diagnosis through newborn screening (NBS) and early treatment can improve outcomes. We present our first 5 yea

Externí odkaz: https://doaj.org/article/de1ed01d3021481d83c94580abbd874c

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Akademický článek

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy

Autor: Alberto B. Burlina, Giulia Polo, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Giovanni Duro, Leonardo Salviati, Alessandro P. Burlina

Publikováno v: International Journal of Neonatal Screening, Vol 5, Iss 2, p 24 (2019)

The increasing availability of treatments and the importance of early intervention have stimulated interest in newborn screening for lysosomal storage diseases. Since 2015, 112,446 newborns in North Eastern Italy have been screened for four lysosomal

Externí odkaz: https://doaj.org/article/f8e8436e80d94bad98d696f444f3754c

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