Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus.

Grandis M, Obici L, Luigetti M, Briani C, Benedicenti F, Bisogni G, Canepa M, Cappelli F, Danesino C, Fabrizi GM, Fenu S, Ferrandes G, Gemelli C, Manganelli F, Mazzeo A, Melchiorri L, Perfetto F, Pradotto LG, Rimessi P, Tini G, Tozza S, Trevisan L, Pareyson D, Mandich P

Open source

DOI: 10.1186/s13023-020-01633-z
Published: 2020 Dec 14
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. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. 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
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/s13023-020-01633-z,
  title = {Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus.},
  author = {Grandis M and Obici L and Luigetti M and Briani C and Benedicenti F and Bisogni G and Canepa M and Cappelli F and Danesino C and Fabrizi GM and Fenu S and Ferrandes G and Gemelli C and Manganelli F and Mazzeo A and Melchiorri L and Perfetto F and Pradotto LG and Rimessi P and Tini G and Tozza S and Trevisan L and Pareyson D and Mandich P},
  year = {2020},
  journal = {Orphanet journal of rare diseases},
  doi = {10.1186/s13023-020-01633-z},
  url = {https://doi.org/10.1186/s13023-020-01633-z}
}

RIS

TY  - JOUR
TI  - Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus.
AU  - Grandis M
AU  - Obici L
AU  - Luigetti M
AU  - Briani C
AU  - Benedicenti F
AU  - Bisogni G
AU  - Canepa M
AU  - Cappelli F
AU  - Danesino C
AU  - Fabrizi GM
AU  - Fenu S
AU  - Ferrandes G
AU  - Gemelli C
AU  - Manganelli F
AU  - Mazzeo A
AU  - Melchiorri L
AU  - Perfetto F
AU  - Pradotto LG
AU  - Rimessi P
AU  - Tini G
AU  - Tozza S
AU  - Trevisan L
AU  - Pareyson D
AU  - Mandich P
PY  - 2020
JO  - Orphanet journal of rare diseases
DO  - 10.1186/s13023-020-01633-z
UR  - https://doi.org/10.1186/s13023-020-01633-z
ER  -

APA

M, G., L, O., M, L., C, B., F, B., G, B., M, C., F, C., C, D., GM, F., S, F., G, F., C, G., F, M., A, M., L, M., F, P., LG, P., P, R., G, T., S, T., L, T., D, P., & P, M. (2020). Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus.. Orphanet journal of rare diseases. https://doi.org/10.1186/s13023-020-01633-z

Source records

pubmed · retrieved 2026-09-26T05:14:48.746Z