Cargando…

FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease

Two disease severity scoring systems, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), have been validated for quantifying the disease burden of Fabry disease. We aimed to develop a dynamic mathematical model [the FASTEX (FAbry STabilization indEX)] to assess th...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mignani, Renzo, Pieruzzi, Federico, Berri, Francesco, Burlina, Alessandro, Chinea, Benito, Gallieni, Maurizio, Pieroni, Maurizio, Salviati, Alessandro, Spada, Marco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2016
Materias:	Management and Education Tools
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036909/ https://www.ncbi.nlm.nih.gov/pubmed/27679722 http://dx.doi.org/10.1093/ckj/sfw082

Ejemplares similares

New insights from the application of the FAbry STabilization indEX in a large population of Fabry cases
por: Mignani, Renzo, et al.
Publicado: (2018)

New insights from the application of the FAbry STabilization indEX in a large population of Fabry cases
por: Mignani, Renzo, et al.
Publicado: (2019)

Will the FAbry STabilization indEX make its way to everyday clinical practice?
por: Cairns, Tereza, et al.
Publicado: (2018)

Safety of a protocol for reduction of agalsidase beta infusion time in Fabry disease: An Italian multi-centre study
por: Mignani, Renzo, et al.
Publicado: (2021)

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
por: Duro, Giovanni, et al.
Publicado: (2018)

Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs
por: Colomba, Paolo, et al.
Publicado: (2018)

Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy
por: Salviati, Alessandro, et al.
Publicado: (2010)

α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response
por: Consolato, Francesco, et al.
Publicado: (2022)

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience
por: Gragnaniello, Vincenza, et al.
Publicado: (2021)

Newborn Screening for Fabry Disease: Current Status of Knowledge
por: Gragnaniello, Vincenza, et al.
Publicado: (2023)

Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis
por: Battaglia, Yuri, et al.
Publicado: (2021)

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
por: Germain, Dominique P., et al.
Publicado: (2018)

Impact of COVID-19 pandemic on patients with Fabry disease: An Italian experience
por: Riccio, Eleonora, et al.
Publicado: (2020)

Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy
por: Liguori, Rocco, et al.
Publicado: (2017)

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts
por: Germain, Dominique P., et al.
Publicado: (2019)

Different renal phenotypes in related adult males with Fabry disease with the same classic genotype
por: Mignani, Renzo, et al.
Publicado: (2017)

The GALA project: practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts
por: Chimenti, Cristina, et al.
Publicado: (2020)

Isolated microalbuminuria as the first clinical presentation of Fabry disease in an adult heterozygous female
por: Mignani, Renzo, et al.
Publicado: (2009)

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment
por: Politei, Juan M., et al.
Publicado: (2016)

Cardiac abnormalities in Anderson-Fabry disease and Fabry’s cardiomyopathy
por: Morrissey, Ryan P, et al.
Publicado: (2011)

Fabry disease
por: Germain, Dominique P
Publicado: (2010)

Fabry Cardiomyopathy
por: Yoon, Jae Yong, et al.
Publicado: (2013)

Evidence of evolution towards left midventricular obstruction in severe Anderson–Fabry cardiomyopathy
por: Graziani, Francesca, et al.
Publicado: (2020)

Time stability of asymmetric Fabry-Perot modulator based analog lightwave links
por: Cervelli, G, et al.
Publicado: (1996)

An Optical Acoustic Detection System Based on Fabry Pérot Etalon Stability Structure
por: Wu, Liyun, et al.
Publicado: (2021)

Prognostic significance of right ventricular hypertrophy and systolic function in Anderson–Fabry disease
por: Graziani, Francesca, et al.
Publicado: (2020)

Metabolic progression to clinical phenotype in classic Fabry disease
por: Spada, Marco, et al.
Publicado: (2017)

Relapsing minimal change disease superimposed on late-onset p.N215S Fabry nephropathy
por: Salerno, Fabio R, et al.
Publicado: (2021)

Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease
por: Rossi, Federica, et al.
Publicado: (2021)

Fabry-Perot interferometers
por: Mora-Hernandez, G
Publicado: (1988)

Cardiac magnetic resonance in Fabry disease
por: Lanzillo, Chiara, et al.
Publicado: (2023)

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
por: Cammisa, Marco, et al.
Publicado: (2013)

Erratum to: Relapsing Minimal Change Disease Superimposed on Late-Onset p.N215S Fabry Nephropathy
por: Salerno, Fabio R, et al.
Publicado: (2022)

Pathologic substrate of gastropathy in Anderson-Fabry disease
por: Di Toro, Alessandro, et al.
Publicado: (2020)

Fabry–Perot Cavity Sensing Probe with High Thermal Stability for an Acoustic Sensor by Structure Compensation
por: Cheng, Jin, et al.
Publicado: (2018)

Fabry nephropathy: a review – how can we optimize the management of Fabry nephropathy?
por: Waldek, Stephen, et al.
Publicado: (2014)

Cornea verticillata caused by Fabry diseaseCórnea verticilata por doença de Fabry
por: Costa, Ana Luiza Fontes de Azevedo, et al.
Publicado: (2014)

Oxidative stress biomarkers in Fabry disease: is there a room for them?
por: Simoncini, C., et al.
Publicado: (2020)

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel
por: Burlina, Alessandro P, et al.
Publicado: (2011)

Fabry Disease and Early Stroke
por: Feldt-Rasmussen, U.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_4d7992ef8iu7h1p94ea7md0lud