Research Topics
Species | Frederick J de SerresSummaryAffiliation: Kathleen D. Schaum and Associates Country: USA Publications
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Detail Information
Publications
Prevalence of α1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive reviewFrederick J de Serres
Center for Evaluation of Risks to Human Reproduction, National Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709 2233, USA
Ther Adv Respir Dis 6:277-95. 2012..The database also provides useful information for the identification of countries with high numbers of PI*ZZ individuals for augmentation therapy within a given geographic region...
Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysemaIgnacio Blanco
Biomedical Research Office OIB FICYT, Rosal, 7 33009 Oviedo, Principality of Asturias, Spain
Orphanet J Rare Dis 6:14. 2011....
Ethnic differences in alpha-1 antitrypsin deficiency in the United States of AmericaFrederick J de Serres
Center for the Evaluation of Risks to Human Reproduction, National Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709 2233, USA
Ther Adv Respir Dis 4:63-70. 2010..Our earlier publications have demonstrated that alpha-1 antitrypsin (AAT) deficiency is not a rare disorder in the United States with at least 33,728 PI*ZZ homozygote individuals at risk...
PI S and PI Z alpha-1 antitrypsin deficiency worldwide. A review of existing genetic epidemiological dataF J de Serres
Center for the Evaluation of Risks to Human Reproduction, Environmental Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709 2233, USA
Monaldi Arch Chest Dis 67:184-208. 2007....
Estimating the risk for alpha-1 antitrypsin deficiency among COPD patients: evidence supporting targeted screeningFrederick J de Serres
Center for the Evaluation of Risks to Human Reproduction, National Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina 27709 2233, USA
COPD 3:133-9. 2006..The result of the present study supports the concept of targeted screening for alpha-1 antitrypsin deficiency in countries with large populations of white (Caucasian) COPD patients...
Estimated numbers and prevalence of PI*S and PI*Z deficiency alleles of alpha1-antitrypsin deficiency in AsiaF J de Serres
National Institute of Environmental Health Sciences, PO Box 12233, Center for the Evaluation of Risks to Human Reproduction National Toxicology Program Research Triangle Park NC 27709 2233 USA
Eur Respir J 28:1091-9. 2006..The largest numbers of ZZ phenotypes (3,000-14,000) were in Afghanistan, Pakistan, Saudi Arabia and Thailand; with <1,700 in each of the remaining countries...
Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency allelesF J de Serres
Laboratory of Molecular Toxicology, Environmental Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709 2233, USA
Monaldi Arch Chest Dis 63:133-41. 2005..This genetic disease is known to exist in Italy and is related to a high risk for development of jaundice in infants, liver disease in children and adults, and pulmonary emphysema in adults...
Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosedFrederick J de Serres
Laboratory of Molecular Toxicology, Division of Intramural Research, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina 27709, USA
Environ Health Perspect 111:1851-4. 2003..Such exposures are known to result in both lung and liver disease as well as other adverse health effects...
Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of AmericaF J de Serres
National Institute of Environmental Health Sciences, National Institutes of Health, PO Box 12233, Laboratory of Molecular Toxicology, Environmental Toxicology Program, Research Triangle Park, NC, USA 27709 2233, USA
Clin Genet 64:382-97. 2003..3. The geographical distribution of individual control cohorts and estimates of the numbers of carriers and deficiency allele phenotypes in each of these four countries are given in individual tables...
Health implications of alpha1-antitrypsin deficiency in Sub-Sahara African countries and their emigrants in Europe and the New WorldFrederick J de Serres
National Institute of Environmental Health Sciences, Laboratory of Molecular Toxicology, Environmental Toxicology Program, Research Triangle Park, NC 27709 2233, USA
Genet Med 7:175-84. 2005..In addition, to discuss the unique susceptibility of these populations and emigrants to Europe and the New World to the adverse health effects associated with exposure to environmental microbes, chemicals, and particulates...
Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveysFrederick J de Serres
Laboratory of Toxicology, Environmental Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27514 6716, USA
Chest 122:1818-29. 2002..There is a limited database of individuals affected by this disease worldwide. It has been estimated, for example, that there are 70,000 to 100,00 individuals affected in the United States, with comparable numbers in Europe...
Alpha-1-antitrypsin phenotypes and HLA-B27 typing in uveitis patients in southeast IranSaeid Ghavami
Department of Clinical Biochemistry, School of Medicine, Zahedan Medical University, Zahedan, Iran
Clin Biochem 38:425-32. 2005..In this study, the role of AAT in uveitis is analyzed...
[PI*S and PI*Z alpha 1-antitrypsin deficiency: estimated prevalence and number of deficient subjects in Spain]Ignacio Blanco
Seccion de Neumologia, Servicio de Medicina Interna, Hospital Valle del Nalon, Langreo, Principado de Asturias, Spain
Med Clin (Barc) 123:761-5. 2004....
