全部来源 求助全文 万方医学 NCBI Europe PMC NCBI ResearchGate 查看更多 相似文献 引证文献Alpha1antitrypsin deficiency: The clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi type Z: A survey by the British ... Hereditary deficiency of alpha1antitrypsin, the main ...
Stoller JK, Hupertz V, Aboussouan LS. Alpha-1 antitrypsin deficiency. In: Adam MP, Ardinger HH, Pagon RA, et. al., eds. GeneReviews. Updated May 21, 2020. Accessed September 28, 2021.https://www.ncbi.nlm.nih.gov/books/NBK1519/ Stoller JK. Clinical manifestations, diagnosis, and nat...
A novel alpha1-antitrypsin null variant (PiQ0Milano ) 来自 NCBI 喜欢 0 阅读量: 31 摘要: Alpha1-antitrypsin deficiency is an autosomal recessive disease characterized by reduced serum levels of alpha1-antitrypsin (AAT) due to mutations in the SERPINA1 gene causing early onset pulmonary emphysema ...
摘要: N Engl J Med. 2002 Jan 3;346(1):45-53. Review 关键词: Humans Dementia Neurodegenerative Diseases Emphysema alpha 1-Antitrypsin Deficiency Endopeptidases Serpins alpha 1-Antitrypsin Protease Inhibitors Protein Conformation DOI: 10.1056/NEJMra010772 被引量: 503 ...
来自 NCBI 喜欢 0 阅读量: 20 作者: None 摘要: The S form is the most common variant of the serum protein α 1 antitrypsin, more than 5% of Northern Europeans being heterozygotes (MS) for the S and normal M alleles. The S variant results in a mild deficiency of antitrypsin that may ...
Radiologic and clinical features of COPD patients with discordant pulmonary physiology: lessons from alpha1-antitrypsin deficiency. 来自 NCBI 喜欢 0 阅读量: 24 作者: Jayne Holme and Robert A. Stockley 摘要: Introduction:Subjects with COPD display heterogeneity in clinical, physiologic, and radiologic ...
Estimated numbers and prevalence of PI*S and PI*Z deficiency alleles of ?1-antitrypsin deficiency in Asia The current study focuses on updating estimates of the numbers of individuals carrying the two most common deficiency alleles, protease inhibitor (PI)*S an... FJ De Serres,I Blanco,...
Congenital Cytomegalovirus (CMV) infection and alpha 1-antitrypsin (A1AT) deficiency are separately well described entities, but their simultaneous occurrence can pose a special challenge to a clinician, especially dealing with optimal diagnostic as well as therapeutic approach. Congenital CMV infection is...
The archetypal status of alpha(1)-antitrypsin in biology and medicine grew from the finding, thirty years ago, by Carl-Bertil Laurell, of the association of its deficiency with emphysema. In biology, alpha(1)-antitrypsin now provides the model for both the structure and the remarkable mechanism...
p pBackground/p pPrevious studies of the natural history of alpha-1-antitrypsin (AAT) deficiency are mostly based on highly selected patients. The aim of this study was to analyse the mortality of PiZZ individuals./p pMethods/p pData from 1339 adult PiZZ individuals from the Swedish National...