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Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62245Source: DataRank Database

Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy is a research paper published in American Journal of Medical Genetics Part A (2021). On theSindex it has a DataRank of 0. It has been cited 28 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access28 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (1 grants)Impact (FWCI 2.83)OA: greenTopics (40)IDs (PubMed, PMC, OpenAlex)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 (15)

Carlos R. Ferreira ORCID,Catherine Groden,H Jeffrey Kim,Kelly King,Monique C. King

Live enrichment

PubMed:34089226 PMC:PMC8330494 OpenAlex:https://openalex.org/W3165840762

Intramural NIH HHS

Grant: ZIA HG200402

FWCI

2.83

Citation Percentile

0.9%

Citation Trend

2019

2022

2023

2024

2025

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

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/8330494

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62245

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62245

journalhttps://doi.org/10.1002/ajmg.a.62245

Fields of Study

Amino Acid Enzymes and MetabolismGenomics and Rare DiseasesGenetic Syndromes and Imprinting

MeSH Terms

Congenital AbnormalitiesExome SequencingAdultTransaminasesChild, PreschoolFemaleFetal Growth RetardationHumansIchthyosisMicrocephalyPsychomotor DisordersSeizuresSerineSphingolipidsLimb Deformities, Congenital

Keywords

MedicineIchthyosisExome sequencingMicrocephalyCompound heterozygosityCongenital ichthyosisNeurodegenerationSerinePediatricsIntellectual disabilityPhenotypeBioinformaticsGeneticsPathologyDermatologyGeneBiologyDiseasePsychiatrySphingolipidsInborn Errors Of MetabolismProgressive Neuropathy

Sustainable Development Goals

SDG 0: Good health and well-being