Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.
- DOI
- 10.1186/s13023-018-0876-5
- Published
- 2018 Aug 3
- Container
- Orphanet journal of rare diseases
- Publisher
- Not recorded
- Open access
- yes
Credibility signals
limited evidence Score 45/100 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.
- cautionDOI resolves: No matching Crossref record was present in this response.
- 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.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- 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.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- supportingOpen access status: Normalized open-access status: open.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Cite this work
BibTeX
@article{allodium:10.1186/s13023-018-0876-5,
title = {Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.},
author = {Tavasoli AR and Parvaneh N and Ashrafi MR and Rezaei Z and Zschocke J and Rostami P},
year = {2018},
journal = {Orphanet journal of rare diseases},
doi = {10.1186/s13023-018-0876-5},
url = {https://doi.org/10.1186/s13023-018-0876-5}
}RIS
TY - JOUR TI - Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations. AU - Tavasoli AR AU - Parvaneh N AU - Ashrafi MR AU - Rezaei Z AU - Zschocke J AU - Rostami P PY - 2018 JO - Orphanet journal of rare diseases DO - 10.1186/s13023-018-0876-5 UR - https://doi.org/10.1186/s13023-018-0876-5 ER -
APA
AR, T., N, P., MR, A., Z, R., J, Z., & P, R. (2018). Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.. Orphanet journal of rare diseases. https://doi.org/10.1186/s13023-018-0876-5
Source records
- pubmed · retrieved 2026-09-26T10:35:21.248Z