Výsledky vyhledávání - "Francesca Falvo"

Genetics and Gene Therapy in Hunter Disease

Autor: Maria Teresa Moricca, Francesca Falvo, Licia Pensabene, Daniela Concolino, Giuseppe Bonapace, Simona Sestito, C Scozzafava, Rosalbina Apa

Publikováno v: Current Gene Therapy. 18:90-95

Mucopolysaccharidosis type II or Hunter syndrome is an X-linked lysosomal storage disease caused by a mutation in the gene encoding the lysosomal enzyme iduronate-2-sulfatase. The consequent enzyme deficiency causes a progressive, multisystem accumul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8271ac07634edab7f8710d53b209c273
https://doi.org/10.2174/1566523218666180404155759

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Norrbottnian clinical variant of Gaucher disease in Southern Italy

Autor: Michele Grisolia, Ferdinando Ceravolo, Francesca Falvo, Simona Sestito, Renato Cantaffa, Mirella Filocamo, Daniela Concolino, Serena Grossi, Maria Teresa Moricca, Pietro Strisciuglio

Publikováno v: Journal of Human Genetics. 62:507-511

The Norrbottnian type of Gaucher disease (GD), as described many years ago, is due to a unique neuronopathic variant (c.1448T>G; L444P) that may have appeared during or before the sixteenth century in northern Sweden. It is a well-defined nosological

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e4f2abf89021a29638cfa0d38fea9c5
https://doi.org/10.1038/jhg.2016.158

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Neurological Involvement in Tetrahydrobiopterin Deficiency

Autor: Ferdinando Ceravolo, Martino Ruggieri, Vincenzo Salpietro, Daniela Concolino, Agata Polizzi, Giuseppina Leone, Stefania Ferraro, Michele Grisolia, Italia Mascaro, Daniela Procopio, Francesca Falvo

Publikováno v: Journal of Pediatric Biochemistry. :019-024

Tetrahydrobiopterin (BH4) is a natural and essential cofactor for the enzymatic hydroxylation of phenylalanine (Phe) and tyrosine (Tyr), and for two tryptophan hydroxylases, three nitric oxide synthases, and glyceryl-ether monooxygenase. Five separat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98c6d49e4a713b4f05e91a2aa8138281
https://doi.org/10.1055/s-0036-1582250

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Pathobiological Insights into the Newly Targeted Therapies of Lysosomal Storage Disorders

Autor: Agata Polizzi, Vincenzo Salpietro, Rosalbina Apa, Angela Nicoletti, Simona Sestito, Ettore Stefanelli, Ferdinando Ceravolo, Daniela Concolino, Martino Ruggieri, Francesca Falvo

Publikováno v: Journal of Pediatric Biochemistry. :030-038

Lysosomal storage disorders (LSDs) are a heterogeneous group of inborn errors of metabolism caused by inherited deficiencies of any of the lysosomal functions, leading to the accumulation of undegraded substrates in multiple tissues and organs. Two-t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d00d12b52481000f443f3a1ebaf6d89d
https://doi.org/10.1055/s-0036-1582224

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Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings

Autor: Giusy Romano, Daniela Concolino, Francesca Falvo, Lidia Larizza, Elisa Colombo, Miriam Ceravolo, Elisa Anastasio, Licia Pensabene, Simona Sestito

Publikováno v: European journal of medical genetics. 62(1)

Clericuzio-type poikiloderma with neutropenia is a well-defined nosological entity, but despite a remarkable number of clinical reports, no long term follow-up data has been presented to date regarding patients with this rare condition. Here we descr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41a1078924a8ddd817abb578011b8ce5
https://pubmed.ncbi.nlm.nih.gov/29753917

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Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 85-91 (2017)

Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introducti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb33916fd4155cf72b5c401d8a99a01
http://hdl.handle.net/20.500.11769/307641

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Genetic variants associated with Fabry disease progression despite enzyme replacement therapy

Autor: Giuseppe Agapito, Simona Sestito, Eleonora Riccio, Antonio Pisani, Francesca Scionti, K Roppa, Francesca Falvo, Pietro Hiram Guzzi, Licia Pensabene, Daniela Concolino, Maria Teresa Di Martino, Angela Nicoletti, Mariamena Arbitrio

Publikováno v: Oncotarget
Oncotarget 8 (2017): 107558–107564. doi:10.18632/oncotarget.22505
info:cnr-pdr/source/autori:Scionti F.; Di Martino M.T.; Sestito S.; Nicoletti A.; Falvo F.; Roppa K.; Arbitrio M.; Guzzi P.H.; Agapito G.; Pisani A.; Riccio E.; Concolino D.; Pensabene L./titolo:Genetic variants associated with Fabry disease progression despite enzyme replacement therapy/doi:10.18632%2Foncotarget.22505/rivista:Oncotarget/anno:2017/pagina_da:107558/pagina_a:107564/intervallo_pagine:107558–107564/volume:8

// Francesca Scionti 1, * , Maria Teresa Di Martino 1, * , Simona Sestito 2 , Angela Nicoletti 2 , Francesca Falvo 2 , Katia Roppa 2 , Mariamena Arbitrio 3 , Pietro Hiram Guzzi 4 , Giuseppe Agapito 4 , Antonio Pisani 5 , Eleonora Riccio 5 , Daniela C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d3ad7c680f3fb0a400b33d5d212fcdc
http://hdl.handle.net/11588/794896

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Neurological Involvement in Inherited Metabolic Diseases: An overview

Autor: Daniela Concolino, Mercuri Francesco Bruno, Francesca Falvo, Ferdinando Ceravolo, Agata Polizzi, Simona Sestito, Martino Ruggieri, Vincenzo Salpietro

Neurological involvement is a typical feature of several inherited metabolic diseases. The onset of signs and/or symptoms may appear as early as the first days of life or after an interval of normal or near-normal growth and development. Metabolic de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da142af16bf1970089a5625bcd64f5ec
http://hdl.handle.net/20.500.11769/43573

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Neuronopathic Gaucher Disease

Autor: Sara Esposito, Agata Polizzi, Maria Teresa Moricca, Vincenzo Salpietro, Angela Nicoletti, Daniela Concolino, Martino Ruggieri, Elisa Pascale, Francesca Falvo, Simona Sestito, Michele Grisolia

Gaucher disease (GD) has been classically divided into three phenotypes primarily according to the absence (type 1 GD or nonneuronopathic GD) or presence and severity (types 2 and 3 GD or neuronopathic GD) of neurological involvement. Despite such di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4fc7a990ce44cea0a46558eaf453a64
http://hdl.handle.net/11567/984291

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