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Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence
K Bork, T Machnig, K Wulff, G Witzke, S Prusty… - Orphanet journal of rare …, 2020 - Springer
Background Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH)(HAEnCI) is
associated with skin swellings, abdominal attacks, and the risk of asphyxia due to upper …
associated with skin swellings, abdominal attacks, and the risk of asphyxia due to upper …
[HTML][HTML] The genetics of hereditary angioedema: a review
Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of
the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in …
the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in …
[HTML][HTML] The international WAO/EAACI guideline for the management of hereditary angioedema–The 2021 revision and update
Hereditary Angioedema (HAE) is a rare and disabling disease for which early diagnosis and
effective therapy are critical. This revision and update of the global WAO/EAACI guideline on …
effective therapy are critical. This revision and update of the global WAO/EAACI guideline on …
Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation
K Bork, K Wulff, BS Möhl, L Steinmüller-Magin… - Journal of Allergy and …, 2021 - Elsevier
Background Hereditary angioedema (HAE) is a potentially fatal disorder resulting in
recurrent attacks of severe swelling. It may be associated with a genetic deficiency of …
recurrent attacks of severe swelling. It may be associated with a genetic deficiency of …
Assessment and management of disease burden and quality of life in patients with hereditary angioedema: a consensus report
Background Hereditary angioedema (HAE) is a rare disease characterized by
unpredictable, potentially life-threatening attacks, resulting in significant physical and …
unpredictable, potentially life-threatening attacks, resulting in significant physical and …
Definition, acronyms, nomenclature, and classification of angioedema (DANCE): AAAAI, ACAAI, ACARE, and APAAACI DANCE consensus
Background Angioedema (AE) manifests with intermittent, localized, self-limiting swelling of
the subcutaneous and/or submucosal tissue. AE is heterogeneous, can be hereditary or …
the subcutaneous and/or submucosal tissue. AE is heterogeneous, can be hereditary or …
Differences and similarities in the mechanisms and clinical expression of bradykinin-mediated vs. mast cell–mediated angioedema
Angioedema (AE), transient localized swelling due to extravasated fluid, is commonly
classified as mast cell mediator-induced, bradykinin-mediated or of unknown cause. AE …
classified as mast cell mediator-induced, bradykinin-mediated or of unknown cause. AE …
Mechanisms involved in hereditary angioedema with normal C1-inhibitor activity
Patients with the inherited disorder hereditary angioedema (HAE) suffer from episodes of
soft tissue swelling due to excessive bradykinin production. In most cases, dysregulation of …
soft tissue swelling due to excessive bradykinin production. In most cases, dysregulation of …
Hereditary angioedema
Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic disorder that
presents with episodic swelling of the skin or mucosal tissue of the upper respiratory and …
presents with episodic swelling of the skin or mucosal tissue of the upper respiratory and …
The expanding spectrum of mutations in hereditary angioedema
The evolution in the knowledge of rare genetic diseases such as hereditary angioedema
(HAE) has increased at a parallel pace with the development of new molecular tools. The …
(HAE) has increased at a parallel pace with the development of new molecular tools. The …