DEFICIT ALFA-1 ANTITRIPSINA
نویسندگان
چکیده
منابع مشابه
Alpha-1 antitrypsin deficiency: diagnosis and treatment* Deficiência de alfa-1 antitripsina: diagnóstico e tratamento
Alpha-1 antitrypsin deficiency is a recently identified genetic disease that occurs almost as frequently as cystic fibrosis. It is caused by various mutations in the SERPINA1 gene, and has numerous clinical implications. Alpha-1 antitrypsin is mainly produced in the liver and acts as an antiprotease. Its principal function is to inactivate neutrophil elastase, preventing tissue damage. The muta...
متن کاملFirst Argentine Study on Alpha-1 Antitrypsin Deficiency in Dried Blood Spot Samples From COPD Patients Primer estudio argentino del déficit de alfa-1-antitripsina en muestras de sangre seca de pacientes con enfermedad pulmonar obstructiva crónica (EPOC)
We welcome the cross-sectional, observational, case-finding study on alpha-1 antitrypsin deficiency (AATD) in 1002 individuals with COPD conducted by Sorroche et al. in Buenos Aires. This is the first study of its kind in Argentina.1 The authors set out to identify all genotypes associated with severe AATD (namely, Pi*ZZ and Pi*SZ) using an effective screening technique based on the quantificat...
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Gaucher disease is an autosomal recessively inherited lysosomal storage disease that results from the defective activity of the enzyme acid β-glucosidase (glucocerebrosidase). Velaglucerase alfa was recently developed and approved as an alternative form to imiglucerase enzyme therapy. Despite differences in primary structure and glycosylation patterns, recent preclinical and clinical trials of ...
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Recombinant human follicle stimulating hormone (rFSH) and luteinizing hormone (LH), also known as follitropin alpha and lutropin alpha, are manufactured by genetic engineering techniques which ensure high quality and batch to batch consistency. Follitropin alpha can be used for controlled ovarian hyperstimulation in assisted reproduction, ovulation induction for WHO group I and II anovulatory i...
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BACKGROUND A 2:1 (150 IU:75 IU) follitropin alfa:lutropin alfa formulation has been developed. A 3-year post-marketing surveillance study is ongoing in Germany to explore the use of this formulation in routine clinical practice. MATERIALS AND METHODS An 11-month interim analysis of data from assisted reproductive technology (ART) cycles only is described. RESULTS Data were available from 85...
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ژورنال
عنوان ژورنال: SCRIPTA PEDIATRICA
سال: 2019
ISSN: 2566-2821,2566-4506
DOI: 10.7251/sceped1902023r