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DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12565Source: DataRank Database

DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype is a research paper published in Journal of Inherited Metabolic Disease (2022). On theSindex it has a DataRank of 0. It has been cited 7 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access7 citations

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Linked data & code

omim brenda

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (4 grants)Impact (FWCI 0.59)OA: greenTopics (32)IDs (PubMed, PMC, OpenAlex)Annotations (2)SDGs (1)

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 (9)

Parith Wongkittichote ORCID,Earnest James Paul Daniel ORCID,Rodrigo Tzovenos Starosta ORCID,Keisuke Ueda ORCID,Bobby G. Ng ORCID

Live enrichment

PubMed:36214423 PMC:PMC9852036 OpenAlex:https://openalex.org/W4304116005

National Institutes of Health

Grant: R01DK99551,U54NS115198(HF)

NIDDK NIH HHS

Grant: R01 DK099551

NICHD NIH HHS

Grant: P50 HD103525

NINDS NIH HHS

Grant: U54 NS115198

FWCI

0.59

Citation Percentile

0.6%

Citation Trend

2023

2024

2025

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

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/9852036

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12565

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12565

journalhttps://doi.org/10.1002/jimd.12565

Fields of Study

Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusMaleHumansCongenital Disorders of GlycosylationGlycosylationPhenotypeGenotypeMovement Disorders

MeSH Terms

GenotypeGlycosylationHumansMaleMovement DisordersPhenotypeCongenital Disorders of Glycosylation

Keywords

HypotoniaGlycosylationPhenotypeExome sequencingBiologyCompound heterozygosityAtaxiaGeneticsGeneNeuroscienceMovement DisordersTremorCongenital Disorders Of GlycosylationN-glycansType I Cdg

Sustainable Development Goals

SDG 0: Good health and well-being