ArticleRespiratory medicine case reports2021
Clinical presentations of four patients with rare Alpha 1 Antitrypsin variants identified in a single US center.
Article in Respiratory medicine case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Phenotypic Expression of Respiratory Diseases and Tailored Treatment in Patients with Intermediate Alpha-1 Antitrypsin Deficiency: Evidence from a Retrospective Analysis of a Selected Cohort of Patients.Medicina (Kaunas, Lithuania) · 2025Article
- Susceptibility of alpha-1 antitrypsin deficiency variants to polymer-blocking therapy.JCI insight · 2025Article
- Alpha-1 Antitrypsin PI M Heterozygotes with Rare Variants: Do They Need a Clinical and Functional Follow-Up?Journal of clinical medicine · 2024Article
- Transplant with MZ genotype liver: what is the clinical pulmonary picture after 30 years? a case report and review of the literature.Journal of medical case reports · 2023Review
- Alpha-1 antitrypsin deficiency in the elderly: a case report.Journal of medical case reports · 2021Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alpha 1 Antitrypsin Deficiency (AATD) is a rare condition primarily associated with lung complications and liver disease. As disease symptoms are similar to those in other respiratory conditions, patients generally experience long delays before receiving an accurate diagnosis and treatment. AATD results from mutations in the
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