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dc.contributor.authorRamaekers, Vincent Th.
dc.contributor.authorQuadros, Edward V.
dc.date.accessioned2022-08-23T14:50:50Z
dc.date.available2022-08-23T14:50:50Z
dc.date.issued2022-07-28
dc.identifier.citationRamaekers VT, Quadros EV. Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies. Nutrients. 2022 Jul 28;14(15):3096. doi: 10.3390/nu14153096. PMID: 35956272; PMCID: PMC9370123.en_US
dc.identifier.eissn2072-6643
dc.identifier.doi10.3390/nu14153096
dc.identifier.piinu14153096
dc.identifier.urihttp://hdl.handle.net/20.500.12648/7477
dc.description.abstractCerebral folate deficiency syndrome (CFDS) is defined as any neuropsychiatric or developmental disorder characterized by decreased CSF folate levels in the presence of normal folate status outside the nervous system. The specific clinical profile appears to be largely determined by the presence or absence of intrauterine folate deficiency as well as postnatal age at which cerebral folate deficiency occurs. The primary cause of CFDS is identified as the presence of serum folate receptor-alpha (FRα) autoantibodies impairing folate transport across the choroid plexus to the brain whereas, in a minority of cases, mitochondrial disorders, inborn errors of metabolism and loss of function mutations of the FRα (FOLR1) gene are identified. Early recognition and diagnosis of CFDS and prompt intervention is important to improve prognosis with successful outcomes. In this article we focus on FRα autoimmunity and its different age-dependent clinical syndromes, the diagnostic criteria, and treatments to be considered, including prevention strategies in this at-risk population.en_US
dc.language.isoenen_US
dc.publisherMDPI AGen_US
dc.relation.urlhttps://www.mdpi.com/2072-6643/14/15/3096en_US
dc.rightsAttribution 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectFood Scienceen_US
dc.subjectNutrition and Dieteticsen_US
dc.titleCerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategiesen_US
dc.typeArticle/Reviewen_US
dc.source.journaltitleNutrientsen_US
dc.source.volume14
dc.source.issue15
dc.source.beginpage3096
dc.description.versionVoRen_US
refterms.dateFOA2022-08-23T14:50:51Z
dc.description.institutionSUNY Downstateen_US
dc.description.departmentCell Biologyen_US
dc.description.degreelevelN/Aen_US


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Attribution 4.0 International
Except where otherwise noted, this item's license is described as Attribution 4.0 International