View in EDS

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

Saved in:
Bibliographic Details
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
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41952152
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Hersh+CP%22">Hersh CP</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Teckman+JH%22">Teckman JH</searchLink>; Pediatrics and Biochemistry, Saint Louis University, Cardinal Glennon Children's Medical Center, St Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Strnad+P%22">Strnad P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hakim+A%22">Hakim A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Carroll+TP%22">Carroll TP</searchLink>; Irish Center for Genetic Lung Disease, Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Hall+IP%22">Hall IP</searchLink>; School of Medicine, University of Nottingham, NIHR Nottingham BRC, NUH NHS Trust, Nottingham, UK.<br /><searchLink fieldCode="AU" term="%22Ghosh+AJ%22">Ghosh AJ</searchLink>; Division of Pulmonary, Critical Care, and Sleep Medicine, SUNY Upstate Medical University, Syracuse, NY, USA.<br /><searchLink fieldCode="AU" term="%22Barjaktarevic+I%22">Barjaktarevic I</searchLink>; University of California Los Angeles David Geffen School of Medicine, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22McElvaney+NG%22">McElvaney NG</searchLink>; Irish Center for Genetic Lung Disease, Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Kaserman+JE%22">Kaserman JE</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lomas+DA%22">Lomas DA</searchLink>; UCL Respiratory, University College London, London, UK.; Institute of Structural and Molecular Biology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Strange+C%22">Strange C</searchLink>; Division of Pulmonary, Critical Care, Allergy and Sleep Medicine, Medical University of South Carolina, Charleston, SC, USA.<br /><searchLink fieldCode="AU" term="%22Drummond+MB%22">Drummond MB</searchLink>; Division of Pulmonary Diseases and Critical Care Medicine, Department of Medicine, University of North Carolina, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Rennard+S%22">Rennard S</searchLink>; Department of Internal Medicine, University of Nebraska Medical Center, Omaha, NE, USA.<br /><searchLink fieldCode="AU" term="%22Hanna+KE%22">Hanna KE</searchLink>; Science and Health Writer/Editor, Seattle, USA.<br /><searchLink fieldCode="AU" term="%22Clark+VC%22">Clark VC</searchLink>; Division of Gastroenterology, Hepatology, and Nutrition, University of Florida, Gainesville, FL, USA.<br /><searchLink fieldCode="AU" term="%22Goldklang+MP%22">Goldklang MP</searchLink>; Departments of Medicine and Anesthesiology, Columbia University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Iverson+P%22">Iverson P</searchLink>; Alpha-1 Foundation, Coral Gables, USA.<br /><searchLink fieldCode="AU" term="%22Wilson+AA%22">Wilson AA</searchLink>; 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.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2026 Apr 08; Vol. 21 (1). <i>Date of Electronic Publication: </i>2026 Apr 08.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Review
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41952152
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13023-026-04283-9
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Hersh CP
      – PersonEntity:
          Name:
            NameFull: Teckman JH
      – PersonEntity:
          Name:
            NameFull: Strnad P
      – PersonEntity:
          Name:
            NameFull: Hakim A
      – PersonEntity:
          Name:
            NameFull: Carroll TP
      – PersonEntity:
          Name:
            NameFull: Hall IP
      – PersonEntity:
          Name:
            NameFull: Ghosh AJ
      – PersonEntity:
          Name:
            NameFull: Barjaktarevic I
      – PersonEntity:
          Name:
            NameFull: McElvaney NG
      – PersonEntity:
          Name:
            NameFull: Kaserman JE
      – PersonEntity:
          Name:
            NameFull: Lomas DA
      – PersonEntity:
          Name:
            NameFull: Strange C
      – PersonEntity:
          Name:
            NameFull: Drummond MB
      – PersonEntity:
          Name:
            NameFull: Rennard S
      – PersonEntity:
          Name:
            NameFull: Hanna KE
      – PersonEntity:
          Name:
            NameFull: Clark VC
      – PersonEntity:
          Name:
            NameFull: Goldklang MP
      – PersonEntity:
          Name:
            NameFull: Iverson P
      – PersonEntity:
          Name:
            NameFull: Wilson AA
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 08
              M: 04
              Text: 2026 Apr 08
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1750-1172
          Numbering:
            – Type: volume
              Value: 21
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Orphanet journal of rare diseases
              Type: main
ResultId 1