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Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions

Genetics in Medicine(2023)10.1016/j.gim.2023.101027Source: DataRank Database

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions is a research paper published in Genetics in Medicine (2023). On theSindex it has a DataRank of 0. It has been cited 17 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access17 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (7 grants)Impact (FWCI 1.84)OA: bronzeTopics (40)IDs (PubMed, OpenAlex)

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 (8)

Judit Perez Ortiz ORCID,Anna N. Ligezka ORCID,Ruqaiah Altassan ORCID,Christin Johnsen ORCID,Matthew Schultz ORCID

Live enrichment

PubMed:37955240 OpenAlex:https://openalex.org/W4388561621

National Center for Advancing Translational Sciences

Grant: 1U54NS115198-01

National Institutes of Health

Grant: 18-007276

National Institutes of Health

Grant: 19-005187

NINDS NIH HHS

Grant: U54 NS115198

National Institute of Neurological Disorders and Stroke

Rare Diseases Clinical Research Network

Mayo Clinic

FWCI

1.84

Citation Percentile

0.9%

Citation Trend

2024

2025

2026

bronzeLicense: cc-by

journalhttp://www.gimjournal.org/article/S1098360023010432/pdf

publisherhttp://www.gimjournal.org/article/S1098360023010432/pdf

publisherhttps://api.elsevier.com/content/article/PII:S1098360023010432?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1098360023010432?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.gim.2023.101027

Fields of Study

Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders ResearchCarbohydrate Chemistry and SynthesisAdultHumansChild, PreschoolCongenital Disorders of GlycosylationAcetazolamideFollow-Up StudiesProspective StudiesCerebellar AtaxiaStrokePhosphotransferases (Phosphomutases)Congenital disorder of glycosylation type 1A

MeSH Terms

AcetazolamideAdultCerebellar AtaxiaChild, PreschoolFollow-Up StudiesHumansProspective StudiesPhosphotransferases (Phosphomutases)Congenital Disorders of GlycosylationStroke

Keywords

MedicinePediatricsNatural history studyAtaxiaAcetazolamideLevetiracetamNatural historyCohortNeuroimagingInternal medicineEpilepsyPsychiatryCongenital Disorders Of GlycosylationPmm2-cdgPhosphomannomutase 2 EnzymeStroke-like Episode (Sle)