Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.

Nasseri Moghaddam Z, Reinhardt EK, Thurm A, Potter BK, Smith M, Graham C, Tiller BH, Baker SA, Bilder DA, Bogar R, Britz J, Cafferty R, Coller DP, DeGrauw TJ, Hall V, Lipshutz GS, Longo N, Mercimek-Andrews S, Miller JS, Pasquali M, Salomons GS, Schulze A, Wheaton CP, Williams KF, Young SP, Li J, Balog S, Selucky T, Stöckler-Ipsiroglu S, Wallis H

Open source

DOI: 10.1186/s13023-025-03900-3
Published: 2025 Aug 7
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/s13023-025-03900-3,
  title = {Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.},
  author = {Nasseri Moghaddam Z and Reinhardt EK and Thurm A and Potter BK and Smith M and Graham C and Tiller BH and Baker SA and Bilder DA and Bogar R and Britz J and Cafferty R and Coller DP and DeGrauw TJ and Hall V and Lipshutz GS and Longo N and Mercimek-Andrews S and Miller JS and Pasquali M and Salomons GS and Schulze A and Wheaton CP and Williams KF and Young SP and Li J and Balog S and Selucky T and Stöckler-Ipsiroglu S and Wallis H},
  year = {2025},
  journal = {Orphanet journal of rare diseases},
  doi = {10.1186/s13023-025-03900-3},
  url = {https://doi.org/10.1186/s13023-025-03900-3}
}

RIS

TY  - JOUR
TI  - Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.
AU  - Nasseri Moghaddam Z
AU  - Reinhardt EK
AU  - Thurm A
AU  - Potter BK
AU  - Smith M
AU  - Graham C
AU  - Tiller BH
AU  - Baker SA
AU  - Bilder DA
AU  - Bogar R
AU  - Britz J
AU  - Cafferty R
AU  - Coller DP
AU  - DeGrauw TJ
AU  - Hall V
AU  - Lipshutz GS
AU  - Longo N
AU  - Mercimek-Andrews S
AU  - Miller JS
AU  - Pasquali M
AU  - Salomons GS
AU  - Schulze A
AU  - Wheaton CP
AU  - Williams KF
AU  - Young SP
AU  - Li J
AU  - Balog S
AU  - Selucky T
AU  - Stöckler-Ipsiroglu S
AU  - Wallis H
PY  - 2025
JO  - Orphanet journal of rare diseases
DO  - 10.1186/s13023-025-03900-3
UR  - https://doi.org/10.1186/s13023-025-03900-3
ER  -

APA

Z, N. M., EK, R., A, T., BK, P., M, S., C, G., BH, T., SA, B., DA, B., R, B., J, B., R, C., DP, C., TJ, D., V, H., GS, L., N, L., S, M., JS, M., M, P., GS, S., A, S., CP, W., KF, W., SP, Y., J, L., S, B., T, S., S, S., & H, W. (2025). Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.. Orphanet journal of rare diseases. https://doi.org/10.1186/s13023-025-03900-3

Source records

pubmed · retrieved 2026-09-26T11:46:13.887Z
europe-pmc · retrieved 2026-09-26T11:46:13.882Z
doaj · retrieved 2026-09-26T11:46:13.856Z