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Further delineation of the phenotypic and metabolomic profile of ALDH1L2‐related neurodevelopmental disorder

Clinical Genetics(2024)10.1111/cge.14479Source: DataRank Database

Further delineation of the phenotypic and metabolomic profile of ALDH1L2‐related neurodevelopmental disorder is a research paper published in Clinical Genetics (2024). On theSindex it has a DataRank of 0. It has been cited 2 times.

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Open Access2 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (3 grants)Impact (FWCI 0.54)OA: greenTopics (32)IDs (PubMed, PMC, OpenAlex)Annotations (2)

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 (12)

Hanan E. Shamseldin ORCID,Halle M. Fogle ORCID,Blake R. Rushing ORCID,Reem H. AlMalki ORCID,Amal Jaafar

Live enrichment

PubMed:38193334 PMC:PMC10990829 OpenAlex:https://openalex.org/W4390754038

National Institutes of Health

Grant: R01 DK117854

NIDDK NIH HHS

Grant: P30 DK056350

NCI NIH HHS

Grant: P30 CA016086

FWCI

0.54

Citation Percentile

0.6%

Citation Trend

2025

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

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC10990829/pdf/nihms-1956035.pdf

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14479

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/10990829

journalhttps://doi.org/10.1111/cge.14479

Fields of Study

Metabolism and Genetic DisordersFolate and B Vitamins ResearchEpigenetics and DNA MethylationHumansAdenosine TriphosphateNADPOxidoreductases Acting on CH-NH Group DonorsPhenotypeFormyltetrahydrofolate Dehydrogenase

MeSH Terms

Formyltetrahydrofolate DehydrogenaseAdenosine TriphosphateOxidoreductases Acting on CH-NH Group DonorsHumansNADPPhenotype

Keywords

PhenotypeNeurodevelopmental disorderMissense mutationEnzymeMetabolomicsMitochondrionDownregulation and upregulationAutophagyBiologyChemistryGeneticsBiochemistryApoptosisGeneBioinformaticsFolate MetabolismAldh1l2

Further delineation of the phenotypic and metabolomic profile of ALDH1L2‐related neurodevelopmental disorder

FAIR Checklist

Authors (12)

Funding (3 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)