Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Pi phenotypes"'
Autor:
de Serres, Frederick J.
Publikováno v:
Environmental Health Perspectives, 2003 Dec 01. 111(16), 1851-1854.
Externí odkaz:
https://www.jstor.org/stable/3435203
Publikováno v:
Monaldi Archives for Chest Disease, Vol 67, Iss 4 (2016)
Background. AAT deficiency is not a rare disease, but one of the most common congenital disorders increasing susceptibility of deficiency individuals to both lung and liver disease as well as other several adverse health effects. Therefore, informati
Externí odkaz:
https://doaj.org/article/8b415713d13449cbb60b3bc1949ae58b
Publikováno v:
Monaldi Archives for Chest Disease, Vol 71, Iss 3 (2016)
Background. AAT deficiency is not a rare disease, but one of the most common congenital disorders increasing susceptibility of individuals with this deficiency to both lung and liver disease as well as other several adverse health effects. Studies to
Externí odkaz:
https://doaj.org/article/ddd3c7eebcf14ffabb688522e3746923
Publikováno v:
Monaldi Archives for Chest Disease, Vol 63, Iss 3 (2005)
Background. Critical to the effective diagnosis and management of disease is information on its prevalence in a particular geographic area such as Italy. Alpha-1- antitrypsin deficiency (AAT Deficiency) is one of the most common serious hereditary di
Externí odkaz:
https://doaj.org/article/448719ae1e5946a29bf01ffc04b90300
Publikováno v:
Monaldi Archives for Chest Disease, Vol 67, Iss 4 (2016)
Background. AAT deficiency is not a rare disease, but one of the most common congenital disorders increasing susceptibility of deficiency individuals to both lung and liver disease as well as other several adverse health effects. Therefore, informati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b12ac065a6607d79c9e996c1f20c095
https://doi.org/10.4081/monaldi.2007.476
https://doi.org/10.4081/monaldi.2007.476
Publikováno v:
Monaldi Archives for Chest Disease, Vol 71, Iss 3 (2016)
Background. AAT deficiency is not a rare disease, but one of the most common congenital disorders increasing susceptibility of individuals with this deficiency to both lung and liver disease as well as other several adverse health effects. Studies to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32723b815fc0bd18a383b36ca95aa282
https://www.monaldi-archives.org/index.php/macd/article/view/354
https://www.monaldi-archives.org/index.php/macd/article/view/354
Autor:
Ignacio Blanco, Enrique Fernández-Bustillo, Daniel Alkassam, Carmen Rodríguez Menéndez, Frederick J. de Serres
Publikováno v:
Medicina Clínica. 123:761-765
Fundamento y objetivo: El deficit de alfa-1-antitripsina (DAAT) es un trastorno hereditario con un riesgo incrementado de padecer enfisema pulmonar y hepatopatias cronicas en ninos y adultos. Actualmente existe en Espana la posibilidad de aplicar tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b24731a24cd94fe1a47845d5b0cdbbd
https://doi.org/10.1016/s0025-7753(04)74661-8
https://doi.org/10.1016/s0025-7753(04)74661-8
Publikováno v:
Clinical Genetics. 60:31-41
The objective of the present study was to review published surveys on allelic frequencies S and Z in European populations to evaluate the validity of the reported data. More than a hundred studies on the topic, published since 1965 until 2000, were r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c9db3981d5aef533b96163a5f6e5ee6a
https://doi.org/10.1034/j.1399-0004.2001.600105.x
https://doi.org/10.1034/j.1399-0004.2001.600105.x
Autor:
E. Fernández, I. Blanco
Publikováno v:
Respiratory Medicine. 95:109-114
The aim of the present study was to review published surveys on allelic frequencies S and Z in Spanish populations to evaluate the validity of the reported data. Thirty-four studies published since 1965 were retrieved by MEDLINE, Index Medicus and co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::266c3f14f3b0d8186c9c94012c42d214
https://doi.org/10.1053/rmed.2000.0964
https://doi.org/10.1053/rmed.2000.0964
Autor:
H. Hugh Fudenberg, Chapuis-Cellier C, Philippe Arnaud, Janardan P. Pandey, Vittoz P, Creyssel R
Publikováno v:
Clinical Genetics. 12:77-79
The validity of the Hardy-Weinberg equilibrium for Pi phenotypes was tested in a population of 1,653 randomly selected, healthy blood donors in Lyon, France. A significant departure from the equilibrium was found, with an excess of FF and SS homozygo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::770e49bf77763941f3c7116656a6d0f6
https://doi.org/10.1111/j.1399-0004.1977.tb00905.x
https://doi.org/10.1111/j.1399-0004.1977.tb00905.x