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A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12556Source: DataRank Database

A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT is a research paper published in Journal of Inherited Metabolic Disease (2022). On theSindex it has a DataRank of 0. It has been cited 11 times.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access11 citations

Cite:

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (1 grants)OA: bronzeTopics (16)IDs (PubMed, PMC)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (28)

Karolina M. Stępień ORCID,Nathan Paull,S. G. Patel ORCID,Michael W. W. Adams ORCID,Mehmet Cihan Balcı ORCID

Live enrichment

PubMed:36093991 PMC:PMC9643640

NIDDK NIH HHS

Grant: R01 DK107900

Influential Citations

1

bronzeLicense: http://onlinelibrary.wiley.com/termsAndConditions#vor

GREENhttp://repositorio.chlc.min-saude.pt/bitstream/10400.17/4715/1/JIMD%202022%201106.pdf

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jimd.12556

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12556

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12556

repositoryhttps://cris.maastrichtuniversity.nl/en/publications/82f4acf5-7cd6-4c67-b4eb-51b645fd880a

Fields of Study

Medicine

MeSH Terms

HumansGalactosemiasUTP-Hexose-1-Phosphate UridylyltransferaseGalactoseHomozygoteAllelesInfant, NewbornFemale

Keywords

GalactosemiaSpeech DelayLong-term OutcomesPoiAcute SymptomsNeurocognitive OutcomesS135l Variant