Work

Atypical Cerebrotendinous Xanthomatosis with Normal Serum Cholestanol and Novel VUS on the CYP27A1 Gene: A Case Report (P6-5.014)

Year: 2025

Type: article

Source: Neurology

DOI: 10.1212/wnl.0000000000211381

Authors: Taylor Peabody, Henry Moore

Institution: University of Miami

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4409225716

FWCI:

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Related to: 10