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Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening

Molecular Genetics & Genomic Medicine(2022)10.1002/mgg3.2056Source: DataRank Database

Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening is a research paper published in Molecular Genetics & Genomic Medicine (2022). On theSindex it has a DataRank of 0. It has been cited 14 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access14 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 1.25)OA: goldTopics (36)IDs (PubMed, PMC, OpenAlex)Annotations (1)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 (10)

Katelynn G. Sagaser ORCID,Cathleen Lawson ORCID,Christine Hertenstein ORCID,Ashley Jachens,Katherine R. Forster ORCID

Live enrichment

PubMed:36444396 PMC:PMC9834184 OpenAlex:https://openalex.org/W4310462238

National Institutes of Health

Grant: K23DK119949

FWCI

1.25

Citation Percentile

0.8%

Citation Trend

2022

2024

2025

2026

goldLicense: cc-by-nc-nd

journalhttps://doi.org/10.1002/mgg3.2056

publisherhttps://doi.org/10.1002/mgg3.2056

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2056

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.2056

repositoryhttps://pubmed.ncbi.nlm.nih.gov/36444396

Fields of Study

Alkaline Phosphatase Research StudiesHeterotopic Ossification and Related ConditionsBone health and osteoporosis researchHumansAlkaline PhosphataseHeterozygoteMutationRetrospective StudiesHypophosphatasia

MeSH Terms

Alkaline PhosphataseHeterozygoteHumansHypophosphatasiaMutationRetrospective Studies

Keywords

HypophosphatasiaMedicineGenetic counselingReferralCompound heterozygosityCarrier testingPediatricsGenetic testingRetrospective cohort studyInternal medicineGeneticsAlleleAlkaline phosphataseBiologyFamily medicinePrenatal diagnosisGenePregnancyCarrier ScreeningAlplIncidental Diagnosis

Sustainable Development Goals

SDG 0: Good health and well-being