Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study
MA Verschoof, LCC van Meenen… - European journal of …, 2024 - Wiley Online Library
Background and purpose Patients with adenosine deaminase 2 (ADA2) deficiency can
present with various neurological manifestations due to vasculopathies and …
present with various neurological manifestations due to vasculopathies and …
TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency: A Case Series
A Soldatos, C Toro, P Hoffmann, T Romeo… - Neurology …, 2023 - AAN Enterprises
Objectives Adenosine deaminase 2 deficiency (DADA2) is a genetic, neurologic, and
systemic vasculitis syndrome, which can lead to recurrent strokes, typically lacunar. In the …
systemic vasculitis syndrome, which can lead to recurrent strokes, typically lacunar. In the …
A narrative review of the neurological manifestations of human adenosine deaminase 2 deficiency
D Mariia, L Ehlers, M Wouters, K Jansen, R Schrijvers… - 2023 - researchsquare.com
Deficiency of human adenosine deaminase type 2 (DADA2) is a complex systemic
autoinflammatory disorder characterized by vasculopathy, immune dysregulation, and …
autoinflammatory disorder characterized by vasculopathy, immune dysregulation, and …
A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report
Z Lucane, Z Davidsone, I Micule, M Auzenbaha… - Pediatric …, 2022 - Springer
Abstract Background Adenosine deaminase 2 (ADA2) deficiency is an inherited
autoinflammatory syndrome caused by a defect in the ADA2 gene. Most common …
autoinflammatory syndrome caused by a defect in the ADA2 gene. Most common …
[HTML][HTML] A novel variant of adenosine deaminase 2 deficiency presented with chronic thrombocytopenia, anemia, and early-onset stroke
A Al-Hebshi, M Aljohani, N AlShenaifi, M Aloqbi… - Cureus, 2021 - ncbi.nlm.nih.gov
Deficiency of adenosine deaminase 2 (DADA2) is a rare recessive disorder caused by the bi-
allelic loss-of-function pathogenic variants in the ADA2 gene (MIM: 607575, also known as …
allelic loss-of-function pathogenic variants in the ADA2 gene (MIM: 607575, also known as …
Widening the neuroimaging features of adenosine deaminase 2 deficiency
Adenosine deaminase 2 deficiency (OMIM# 615688) is an autosomal recessive disorder
characterized by a wide clinical spectrum, including small-and medium-sized vessel …
characterized by a wide clinical spectrum, including small-and medium-sized vessel …
Deficiency of adenosine deaminase 2; special focus on central nervous system imaging
Purpose To increase the knowledge of central nervous system (CNS) imaging features in
deficiency of adenosine deaminase 2 (DADA2) by examining magnetic resonance imaging …
deficiency of adenosine deaminase 2 (DADA2) by examining magnetic resonance imaging …
P 520. Unclear Strokes in Pediatrics—Adenosine Deaminase 2 (ADA2) Deficiency as a Therapeutic Relevant Differential Diagnosis to Acquired Inflammatory CNS …
S Christ, B Haber, J Grulich-Henn… - …, 2018 - thieme-connect.com
Background: Adenosine deaminase 2 (ADA2) deficiency is an autosomal recessive disease
and is caused by a mutation in the CECR1 gene. ADA2 deficiency goes clinically along with …
and is caused by a mutation in the CECR1 gene. ADA2 deficiency goes clinically along with …
Adenosine deaminase 2 deficiency: A disease with multiple presentations
L Caratsch, C Schnider, L Moi… - Revue Medicale …, 2022 - europepmc.org
Adenosine deaminase 2 deficiency (DADA2) is a genetic auto-inflammatory disease that
most often presents in childhood, but that can also have a late onset in adulthood. It is …
most often presents in childhood, but that can also have a late onset in adulthood. It is …
Adult-onset deficiency of adenosine deaminase 2—a case report and literature review
B Zhang, Y Sun, N Xu, W Wang, X Huang, J Chen… - Clinical …, 2021 - Springer
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease caused
by ADA2 gene mutation that is characterized by three phenotype domains: vasculopathy …
by ADA2 gene mutation that is characterized by three phenotype domains: vasculopathy …
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