Clinical characterization of a novel alpha1-antitrypsin null variant: PiQ0Heidelberg-Reference-Cited by-同舟云学术

Clinical characterization of a novel alpha1-antitrypsin null variant: PiQ0Heidelberg

Published:2022 Issue: Volume:35 Page:101570
ISSN:2213-0071
Container-title:Respiratory Medicine Case Reports
language:en
Short-container-title:Respiratory Medicine Case Reports

Author:

Presotto Maria A.,Veith Martina,Trinkmann Frederik,Schlamp Kai,Polke Markus,Eberhardt Ralf,Herth Felix,Trudzinski Franziska C.^ORCID

Funder

Grifols SA

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine

Reference15 articles.

1. Novel variants of SERPIN1A gene: interplay between alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease;Bashir;Respir. Med.,2016

2. Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis;Dickens;Drug Des. Dev. Ther.,2011

3. Known mutations at the cause of alpha-1 antitrypsin deficiency an updated overview of SERPINA1 variation spectrum;Seixas;Appl. Clin. Genet.,2021

4. Alpha-1-antitrypsin (SERPINA1) mutation spectrum: three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal;Silva;Respir. Med.,2016

5. Alpha-1 antitrypsin deficiency detection in a Portuguese population;Meira;COPD,2018

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Alpha-1 Antitrypsin PI M Heterozygotes with Rare Variants: Do They Need a Clinical and Functional Follow-Up?;Journal of Clinical Medicine;2024-02-14

2. An Alpha-1 Antitrypsin Deficiency Screening Study in Patients with Chronic Obstructive Pulmonary Disease, Bronchiectasis, or Asthma in Turkey;International Journal of Chronic Obstructive Pulmonary Disease;2023-11

3. Diagnosis and augmentation therapy for alpha-1 antitrypsin deficiency: current knowledge and future potential;Drugs in Context;2023-07-20

4. Characterization of three new SERPINA1 variants PiQ0Heidelberg II, PiQ0Heidelberg III and PiQ0Heidelberg IV in patients with severe alpha-1 antitrypsin deficiency;Respiratory Medicine Case Reports;2023

5. Orphan drug development in alpha-1 antitypsin deficiency;Scientific Reports;2022-09-15