Article
[Development of a laboratory test on dried blood spots for facilitating early diagnosis of alpha-1-antitrypsin deficiency].
Annales de biologie clinique - 1 Jan 2000
Balduyck Malika, Chapuis Cellier Colette, Roche Denis, Odou Marie-Françoise, Joly Philippe, Madelain Vincent, Vergne Anita, Nouadje Georges, Lafitte Jean-Jacques, Porchet Nicole, Beaune Philippe, Zerimech Farid
Abstract excerpt
Alpha- 1-antitrypsin (A1AT) deficiency is a hereditary autosomal codominant genetic disorder resulting in low circulating levels of A1AT and leading to lung and/or liver disease. It remains underdiagnosed and only 5 to 10% of PIZZ patients, the most common form of severe A1AT deficiency, would be actually identified in France. Facilitating early diagnosis of A1AT deficiency would allow a better management of this...
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