Cargando…

HAE patient self-sampling for biomarker establishment

BACKGROUND: Hereditary Angioedema (HAE) is a genetic disorder that leads to frequent angioedema attacks in various parts of the body. In most cases it is caused by pathogenic variants in the SERPING1 gene, coding for C1-Inhibitor (C1-INH). The pathogenic variants in the gene result in reduced C1-INH...

Descripción completa

Detalles Bibliográficos
Autores principales:	Förster, Toni M., Magerl, Markus, Maurer, Marcus, Zülbahar, Selen, Zielke, Susanne, Inhaber, Neil, Crocetta, Donatello, Rolfs, Arndt, Skrahina, Volha
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8478266/ https://www.ncbi.nlm.nih.gov/pubmed/34583739 http://dx.doi.org/10.1186/s13023-021-02021-x

Ejemplares similares

Long-term prophylaxis with lanadelumab for HAE: authorization for temporary use in France
por: Fain, Olivier, et al.
Publicado: (2022)

Microbial contamination and composition of oral samples subjected to clinical whole genome sequencing
por: Kumar, Abhishek, et al.
Publicado: (2023)

The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings
por: Skrahina, Volha, et al.
Publicado: (2020)

Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE)
por: Parsopoulou, Faidra, et al.
Publicado: (2022)

Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report
por: Tkemaladze, Tinatin, et al.
Publicado: (2022)

The symptom experience of hereditary angioedema (HAE) patients beyond HAE attacks: literature review and clinician interviews
por: Jean-Baptiste, Milenka, et al.
Publicado: (2022)

Hereditary angioedema (HAE) in children and adolescents—a consensus on therapeutic strategies
por: Wahn, V., et al.
Publicado: (2012)

HAE therapies: past present and future
por: Zuraw, Bruce L
Publicado: (2010)

HAE international home therapy consensus document
por: Longhurst, Hilary J, et al.
Publicado: (2010)

Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease
por: Tkemaladze, Tinatin, et al.
Publicado: (2023)

Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease
por: Dinur, Tama, et al.
Publicado: (2023)

Laryngeal edema is common in HAE and demands preventive measures
por: Rosario, Cristine Secco, et al.
Publicado: (2015)

Secondary findings in a large Pakistani cohort tested with whole genome sequencing
por: Skrahin, Aliaksandr, et al.
Publicado: (2023)

Rapid Large-Scale COVID-19 Testing during Shortages
por: Beetz, Christian, et al.
Publicado: (2020)

Exploring the HME and HAE1 efflux systems in the genus Burkholderia
por: Perrin, Elena, et al.
Publicado: (2010)

Cost-effectiveness model for on-demand treatment of hereditary angioedema (HAE) attacks
por: Tyson, Christopher, et al.
Publicado: (2019)

Hereditary angioedema (HAE) in Belgium: results from a national survey
por: Van der Poorten, MM, et al.
Publicado: (2023)

Involvement of IDA-HAE Module in Natural Development of Tomato Flower Abscission
por: Lu, Lu, et al.
Publicado: (2023)

Long‐term prevention of hereditary angioedema attacks with lanadelumab: The HELP OLE Study
por: Banerji, Aleena, et al.
Publicado: (2021)

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study
por: Curado, Filipa, et al.
Publicado: (2023)

Icatibant use in Brazilian patients with hereditary angioedema (HAE) type 1 or 2 and HAE with normal C1-INH levels: findings from the Icatibant Outcome Survey Registry Study()
por: Grumach, Anete S., et al.
Publicado: (2022)

Transcriptional profiling of the Arabidopsis abscission mutant hae hsl2 by RNA-Seq
por: Niederhuth, Chad E, et al.
Publicado: (2013)

Chromosome-Scale Assembly and Annotation of the Macadamia Genome (Macadamia integrifolia HAES 741)
por: Nock, Catherine J., et al.
Publicado: (2020)

COVID-19 triggers attacks in HAE patients without worsening disease outcome
por: Olivares, María Margarita, et al.
Publicado: (2022)

Long-term Prophylaxis with Androgens in the management of Hereditary Angioedema (HAE) in emerging countries
por: Guo, Yinshi, et al.
Publicado: (2022)

Prevention of Recurrent Attacks of Hereditary Angioedema (HAE): Berotralstat and Its Oral Bioavailability
por: Diaz-Menindez, Maximiliano, et al.
Publicado: (2023)

C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease
por: Cozma, Claudia, et al.
Publicado: (2017)

Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology
por: Skrahina, Volha, et al.
Publicado: (2021)

The hereditary angioedema burden of illness study in Europe (HAE-BOIS-Europe): background and methodology
por: Bygum, Anette, et al.
Publicado: (2012)

The prophylactic use of C1 esterase inhibitor in HAE patients undergoing invasive procedures
por: Harrison, Rachel, et al.
Publicado: (2014)

Lanadelumab Injection Treatment For The Prevention Of Hereditary Angioedema (HAE): Design, Development And Place In Therapy
por: Bova, Maria, et al.
Publicado: (2019)

A patient with hereditary angioedema (HAE) with normal C1-INH and SLE with pregnancy
por: Taha, Omar S., et al.
Publicado: (2022)

Candida albicans Hap43 Domains Are Required under Iron Starvation but Not Excess
por: Skrahina, Volha, et al.
Publicado: (2017)

Risk of angioedema following invasive or surgical procedures in HAE type I and II – the natural history
por: Aygören-Pürsün, E, et al.
Publicado: (2013)

Safety Aspects and Rational Use of Lanadelumab Injections in the Treatment of Hereditary Angioedema (HAE): Clinical Insights
por: Petkova, Elena, et al.
Publicado: (2022)

Differences and Similarities in the Mechanisms and Clinical Expression of Bradykinin-Mediated vs. Mast Cell–Mediated Angioedema
por: Maurer, Marcus, et al.
Publicado: (2021)

Screening for hereditary angioedema (HAE) at 13 emergency centers in Osaka, Japan: A prospective observational study
por: Hirose, Tomoya, et al.
Publicado: (2017)

Metals in fungal virulence
por: Gerwien, Franziska, et al.
Publicado: (2017)

Effectiveness of lanadelumab for preventing hereditary angioedema attacks: Subgroup analyses from the HELP study
por: Johnston, Douglas T., et al.
Publicado: (2021)

LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact
por: Beetz, Christian, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_g0gfftspvt88nbjmogr423rc9r