Neonatal screening for alpha1-antitrypsin deficiency†
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Cited by (126)
Testing Patterns and Disparities for Alpha-1 Antitrypsin Deficiency
2023, American Journal of MedicineFrench clinical practice guidelines for the diagnosis and management of lung disease with alpha 1-antitrypsin deficiency
2022, Revue des Maladies RespiratoiresPrevalence of Alpha-1 Antitrypsin Deficiency, Self-Reported Behavior Change, and Health Care Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report
2022, ChestCitation Excerpt :We note that because of oversampling methodology, the prevalence of risk variants in this study is not representative of the general population. An earlier analysis of over 1.2 million individuals from the same 23andMe database24 reported overall allele frequencies of 1.54% (PI∗Z) and 3.68% (PI∗S), and genotype frequencies of 0.026% (PI∗ZZ) and 0.129% (PI∗SZ), which resembles prior prevalence estimates.25,26 Not surprisingly, AATD and other respiratory illnesses were more common among those with risk variants compared with those without; the prevalence of respiratory illness among those with the PI∗SZ genotype was intermediate between those with PI∗MM and PI∗ZZ genotypes (Table 2, e-Table 3).
Abnormalities of Hepatic Protein Metabolism
2020, Pediatric Gastrointestinal and Liver Disease, Sixth EditionHereditary pulmonary emphysema
2019, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders
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Supported in part by grants from the National Foundation (No. CE-14), and from the National Institutes of Health (No. HD 03967-10), and from Maternal Child Health (Grant No. 435).