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Clinical characteristics PCD

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posted on 2022-01-18, 08:37 authored by L.L. CrefcoeurL.L. Crefcoeur, Barbara Sjouke, Gepke Visser, Mirjam Langeveld, Frits Wijburg, Sacha Ferdinandusse
Raw data of a structured review, aiming to evaluate clinical characteristics of primary carnitine deficiency (PCD). The data sheet (Clinical charactaristics PCD.csv) contains individual case data on publication information, diagnosis, genetic characteristics and symptoms.
The data sheet (Carnitine measurement diagnosis.csv) contains the results of carnitine measurements at diagnosis of individual cases.
The data sheet (Additional testing.xlsx) contains the reported results from additional testing extracted from the published records.

Funding

ZonMw Grant number 543002003

History

Retention period

2042-01-03

Research priority area

  • Metabolic Diseases

Usage metrics

    Amsterdam University Medical Centers (AUMC)

    Categories

    Keywords

    primary carnitine deficiency (PCD)OCTN2literature review.ResultsFromClinical CharacteristicsSLC22A5Metabolic disordersMetabolic Disease

    Licence

    CC BY 4.0

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