L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With <scp>COXPD10</scp>

Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia

Open source

DOI: 10.1002/ajmg.a.70299
Published: 2026-09-17
Container: American Journal of Medical Genetics Part A
Publisher: Wiley
Open access: unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

supportingDOI registered: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
supportingDOI resolves: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. 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
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
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
supportingMetadata completeness: All 6 scored descriptive metadata groups are present. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1002/ajmg.a.70299,
  title = {L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With
                    <scp>COXPD10</scp>},
  author = {Nishitha R. Pillai and Sara A. Elsbecker and Grace Bronken McCarthy and Kaitlin Weisshappel and Peter Karachunski and Fernando Scaglia},
  year = {2026},
  journal = {American Journal of Medical Genetics Part A},
  doi = {10.1002/ajmg.a.70299},
  url = {https://doi.org/10.1002/ajmg.a.70299}
}

RIS

TY  - JOUR
TI  - L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With
                    <scp>COXPD10</scp>
AU  - Nishitha R. Pillai
AU  - Sara A. Elsbecker
AU  - Grace Bronken McCarthy
AU  - Kaitlin Weisshappel
AU  - Peter Karachunski
AU  - Fernando Scaglia
PY  - 2026
JO  - American Journal of Medical Genetics Part A
DO  - 10.1002/ajmg.a.70299
UR  - https://doi.org/10.1002/ajmg.a.70299
ER  -

APA

Pillai, N. R., Elsbecker, S. A., McCarthy, G. B., Weisshappel, K., Karachunski, P., & Scaglia, F. (2026). L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With <scp>COXPD10</scp>. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.70299

Source records

crossref · retrieved 2026-09-25T20:35:19.347Z