Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).

Bolton SC, Soran V, Marfa MP, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T

Open source

DOI: 10.1186/s13023-022-02200-4
Published: 2022 Feb 14
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/s13023-022-02200-4,
  title = {Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).},
  author = {Bolton SC and Soran V and Marfa MP and Imrie J and Gissen P and Jahnova H and Sharma R and Jones S and Santra S and Crushell E and Stampfer M and Coll MJ and Dawson C and Mathieson T and Green J and Dardis A and Bembi B and Patterson MC and Vanier MT and Geberhiwot T},
  year = {2022},
  journal = {Orphanet journal of rare diseases},
  doi = {10.1186/s13023-022-02200-4},
  url = {https://doi.org/10.1186/s13023-022-02200-4}
}

RIS

TY  - JOUR
TI  - Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
AU  - Bolton SC
AU  - Soran V
AU  - Marfa MP
AU  - Imrie J
AU  - Gissen P
AU  - Jahnova H
AU  - Sharma R
AU  - Jones S
AU  - Santra S
AU  - Crushell E
AU  - Stampfer M
AU  - Coll MJ
AU  - Dawson C
AU  - Mathieson T
AU  - Green J
AU  - Dardis A
AU  - Bembi B
AU  - Patterson MC
AU  - Vanier MT
AU  - Geberhiwot T
PY  - 2022
JO  - Orphanet journal of rare diseases
DO  - 10.1186/s13023-022-02200-4
UR  - https://doi.org/10.1186/s13023-022-02200-4
ER  -

APA

SC, B., V, S., MP, M., J, I., P, G., H, J., R, S., S, J., S, S., E, C., M, S., MJ, C., C, D., T, M., J, G., A, D., B, B., MC, P., MT, V., & T, G. (2022). Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).. Orphanet journal of rare diseases. https://doi.org/10.1186/s13023-022-02200-4

Source records

pubmed · retrieved 2026-09-26T21:30:59.708Z
europe-pmc · retrieved 2026-09-26T21:30:59.713Z
doaj · retrieved 2026-09-26T21:30:59.723Z