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

Hersh CP, Teckman JH, Strnad P, Hakim A, Carroll TP, Hall IP, Ghosh AJ, Barjaktarevic I, McElvaney NG, Kaserman JE, Lomas DA, Strange C, Drummond MB, Rennard S, Hanna KE, Clark VC, Goldklang MP, Iverson P, Wilson AA

Open source

DOI: 10.1186/s13023-026-04283-9
Published: 2026 Apr 8
Container: Orphanet journal of rare diseases
Publisher: Not recorded
Open access: yes

Credibility signals

uncertain Score 53/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
supportingDirectory of Open Access Journals: A matching record was returned by DOAJ. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1186/s13023-026-04283-9,
  title = {Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications.},
  author = {Hersh CP and Teckman JH and Strnad P and Hakim A and Carroll TP and Hall IP and Ghosh AJ and Barjaktarevic I and McElvaney NG and Kaserman JE and Lomas DA and Strange C and Drummond MB and Rennard S and Hanna KE and Clark VC and Goldklang MP and Iverson P and Wilson AA},
  year = {2026},
  journal = {Orphanet journal of rare diseases},
  doi = {10.1186/s13023-026-04283-9},
  url = {https://doi.org/10.1186/s13023-026-04283-9}
}

RIS

TY  - JOUR
TI  - Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications.
AU  - Hersh CP
AU  - Teckman JH
AU  - Strnad P
AU  - Hakim A
AU  - Carroll TP
AU  - Hall IP
AU  - Ghosh AJ
AU  - Barjaktarevic I
AU  - McElvaney NG
AU  - Kaserman JE
AU  - Lomas DA
AU  - Strange C
AU  - Drummond MB
AU  - Rennard S
AU  - Hanna KE
AU  - Clark VC
AU  - Goldklang MP
AU  - Iverson P
AU  - Wilson AA
PY  - 2026
JO  - Orphanet journal of rare diseases
DO  - 10.1186/s13023-026-04283-9
UR  - https://doi.org/10.1186/s13023-026-04283-9
ER  -

APA

CP, H., JH, T., P, S., A, H., TP, C., IP, H., AJ, G., I, B., NG, M., JE, K., DA, L., C, S., MB, D., S, R., KE, H., VC, C., MP, G., P, I., & AA, W. (2026). Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications.. Orphanet journal of rare diseases. https://doi.org/10.1186/s13023-026-04283-9

Source records

pubmed · retrieved 2026-09-25T17:29:18.714Z
europe-pmc · retrieved 2026-09-25T17:29:18.733Z
doaj · retrieved 2026-09-25T17:29:18.737Z