Cargando…

Severe manifestations and treatment of COVID-19 in a transplanted patient with Fabry disease

Fabry disease is an X linked disease caused by pathogenic variants in the GLA gene. The cardiovascular and renal systems are most affected in Fabry patients and may require heart or kidney transplants in the late stages of the disease depending on severity of manifestations. Enzyme replacement thera...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mahoney, Ryan, Lee, Grace K., Zepeda, Joaquin Ponce, Gabriel, Christopher, Hall, Kathy, Edwards, Rob, Kimonis, Virginia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8443332/ https://www.ncbi.nlm.nih.gov/pubmed/34545322 http://dx.doi.org/10.1016/j.ymgmr.2021.100802

Ejemplares similares

Polycystic kidney disease complicates renal pathology in a family with Fabry disease
por: Johar, Leepakshi, et al.
Publicado: (2022)

Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy
por: Dutra-Clarke, Marina, et al.
Publicado: (2020)

Prevalence of cerebral small vessel disease in a Fabry disease cohort
por: Tapia, Daisy, et al.
Publicado: (2021)

Regional Strain Pattern and Correlation with Cardiac Magnetic Resonance Imaging in Fabry Disease
por: Wang, Stephani C., et al.
Publicado: (2021)

Current status of cardiac manifestations in Fabry disease and their treatment
por: Radulescu, Dan, et al.
Publicado: (2021)

Ophthalmic Manifestations in Fabry Disease: Updated Review
por: Gambini, Gloria, et al.
Publicado: (2023)

Renal Manifestations of Fabry Disease: A Narrative Review
por: Silva, Cassiano Augusto Braga, et al.
Publicado: (2021)

Fabry disease – a multisystemic disease with gastrointestinal manifestations
por: Lenders, Malte, et al.
Publicado: (2022)

High Variability of Fabry Disease Manifestations in an Extended Italian Family
por: Cammarata, Giuseppe, et al.
Publicado: (2015)

Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease
por: Wang, Wei-Ting, et al.
Publicado: (2020)

Ocular manifestations in a patient with de novo Fabry disease
por: Lee, You Hyun, et al.
Publicado: (2018)

Rats deficient in α-galactosidase A develop ocular manifestations of Fabry disease
por: Miller, James J., et al.
Publicado: (2019)

Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study
por: Wanner, Christoph, et al.
Publicado: (2022)

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

Longitudinal study on ocular manifestations in a cohort of patients with Fabry disease
por: Michaud, Langis
Publicado: (2019)

CARS Imaging Advances Early Diagnosis of Cardiac Manifestation of Fabry Disease
por: Tolstik, Elen, et al.
Publicado: (2022)

Cell Transplantation Combined with Recombinant Collagen Peptides for the Treatment of Fabry Disease
por: Kami, Daisuke, et al.
Publicado: (2020)

An Atypical Cardiac Manifestation of Fabry Disease from a Novel Pathological Variant on the GLA Gene
por: Sarsam, Luay, et al.
Publicado: (2020)

Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy
por: Fall, Brent, et al.
Publicado: (2016)

Autophagy-lysosome pathway alteration in ocular surface manifestations in Fabry disease patients
por: Marenco, Marco, et al.
Publicado: (2022)

Kidney Transplant in Fabry Disease: A Revision of the Literature
por: Capelli, Irene, et al.
Publicado: (2020)

Developments in the treatment of Fabry disease
por: van der Veen, Sanne J., et al.
Publicado: (2020)

A Novel Frameshift Mutation of Galactosidase-alpha in Fabry Disease Restricted to Dermatologic Manifestations
por: Kim, Dae Hun, et al.
Publicado: (2013)

The role of native T1 values on the evaluation of cardiac manifestation in Japanese Fabry disease patients
por: Anan, Ikuko, et al.
Publicado: (2022)

Gastrointestinal Manifestations and Low-FODMAP Protocol in a Cohort of Fabry Disease Adult Patients
por: Gugelmo, Giorgia, et al.
Publicado: (2023)

Outcomes of Kidney Transplantation in Fabry Disease: A Meta-Analysis
por: Suarez, Maria L. Gonzalez, et al.
Publicado: (2020)

Dysmorphology of inborn errors of metabolism
por: Kimonis, Virginia
Publicado: (2014)

Clinical utility and dilemmas of SNP microarray testing
por: Kimonis, Virginia
Publicado: (2014)

Fabry Disease: The Current Treatment Landscape
por: Lenders, Malte, et al.
Publicado: (2021)

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease
por: Lenders, Malte, et al.
Publicado: (2016)

Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb(3)) in Fabry Transgenic Mice and in the Plasma of Fabry Patients
por: Young-Gqamana, Brandy, et al.
Publicado: (2013)

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

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

Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease
por: Hamed, Alaa, et al.
Publicado: (2021)

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene
por: Lukas, Jan, et al.
Publicado: (2012)

Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y
por: Oder, Daniel, et al.
Publicado: (2016)

A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging
por: Anker, Pálma, et al.
Publicado: (2023)

Fabry Cardiomyopathy: Current Treatment and Future Options
por: Vardarli, Irfan, et al.
Publicado: (2021)

Treatment of Fabry Disease: Established and Emerging Therapies
por: Umer, Muhammad, et al.
Publicado: (2023)

Treatment of Fabry Nephropathy: A Literature Review
por: Shimohata, Homare, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_lne3c474iea3k24kdj1rj3hhdu