نتایج جستجو برای: alpha 1 antitrypsin

تعداد نتایج: 2882244  

2009
Bibek Gooptu Elena Miranda Irene Nobeli Meera Mallya Andrew Purkiss Sarah C. Leigh Brown Charlotte Summers Russell L. Phillips David A. Lomas Tracey E. Barrett

The common Z mutant (Glu342Lys) of alpha(1)-antitrypsin results in the formation of polymers that are retained within hepatocytes. This causes liver disease whilst the plasma deficiency of an important proteinase inhibitor predisposes to emphysema. The Thr114Phe and Gly117Phe mutations border a surface cavity identified as a target for rational drug design. These mutations preserve inhibitory a...

2016

Submit Manuscript | http://medcraveonline.com Abbreviations: A1ATD: Alpha-1 Antitrypsin Deficiency; A1AT: Alpha-1 Antitrypsin; ER: Endoplasmic Reticulum; PAS: Periodic Acid Schiff; SNPs: Single Nucleotide Polymorphisms; ERManI: ER Mannosidase I; IPSC: Induced Pluripotent Stem Cell; GC: GlobuleContaining; GD: Globule Devoid; 4-PBA: 4-Phenylbutyric Acid; GFP: Green Fluorescent Protein; LOPAC: Lib...

Journal: :American Journal of Respiratory and Critical Care Medicine 2020

Journal: :Journal of the Royal Society of Medicine 1999

Journal: :Respiratory care 2006
John W Walsh Gordon L Snider James K Stoller

Patient-advocacy organizations have proliferated because they can be an effective method to advance research and clinical care for those with the index condition, and can produce substantial benefits for the affected community, especially when the condition is uncommon. To clarify critical success factors in organizing a patient-advocacy organization and to provide a blueprint for others, inclu...

2017
Andrew W Wang Kimberly Newton Karen Kling

We describe the rare instance of concomitant biliary atresia and alpha-1-antitrypsin deficiency and the first documented successful portoenterostomy in this scenario. The potential for dual pathology must be recognized and underscores that prompt diagnosis of biliary atresia, despite concomitant alpha-1-antitrypsin deficiency, is essential to afford potential longstanding native liver function.

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