Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications.

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Title: Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications.
Authors: Hersh CP; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Teckman JH; Pediatrics and Biochemistry, Saint Louis University, Cardinal Glennon Children's Medical Center, St Louis, MO, USA., Strnad P; Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Aachen, Germany., Hakim A; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology and Hepatology, Beth Israel Deaconess Medical Center, Boston, MA, USA., Carroll TP; Irish Center for Genetic Lung Disease, Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland., Hall IP; School of Medicine, University of Nottingham, NIHR Nottingham BRC, NUH NHS Trust, Nottingham, UK., Ghosh AJ; Division of Pulmonary, Critical Care, and Sleep Medicine, SUNY Upstate Medical University, Syracuse, NY, USA., Barjaktarevic I; University of California Los Angeles David Geffen School of Medicine, Los Angeles, CA, USA., McElvaney NG; Irish Center for Genetic Lung Disease, Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland., Kaserman JE; Center for Regenerative Medicine (CReM) of Boston University and Boston Medical Center, Boston, MA, USA.; The Pulmonary Center and Department of Medicine, Boston University School of Medicine, Boston, MA, USA., Lomas DA; UCL Respiratory, University College London, London, UK.; Institute of Structural and Molecular Biology, University College London, London, UK., Strange C; Division of Pulmonary, Critical Care, Allergy and Sleep Medicine, Medical University of South Carolina, Charleston, SC, USA., Drummond MB; Division of Pulmonary Diseases and Critical Care Medicine, Department of Medicine, University of North Carolina, Chapel Hill, NC, USA., Rennard S; Department of Internal Medicine, University of Nebraska Medical Center, Omaha, NE, USA., Hanna KE; Science and Health Writer/Editor, Seattle, USA., Clark VC; Division of Gastroenterology, Hepatology, and Nutrition, University of Florida, Gainesville, FL, USA., Goldklang MP; Departments of Medicine and Anesthesiology, Columbia University, New York, NY, USA., Iverson P; Alpha-1 Foundation, Coral Gables, USA., Wilson AA; Center for Regenerative Medicine (CReM) of Boston University and Boston Medical Center, Boston, MA, USA. awilson@bu.edu.; The Pulmonary Center and Department of Medicine, Boston University School of Medicine, Boston, MA, USA. awilson@bu.edu.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Apr 08; Vol. 21 (1). Date of Electronic Publication: 2026 Apr 08.
Publication Type: Journal Article; Review
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1750-1172
DOI:10.1186/s13023-026-04283-9