Article

Spinal Cerebrotendinous Xanthomatosis: An Easily Overlooked Treatable Disorder

2020-07-13

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Classic cerebrotendinous xanthomatosis (CTX; OMIM #213700) manifests itself in childhood with chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms. Biallelic inactivation of <italic>CYP27A1</italic> is responsible for cholesterol 27-hydroxylation, leading to cholestanol accumulation in the central nervous system, eyes and tendons. Les...

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Literature Corpus work: 9183765f-d2ef-53db-b295-fb034fb17f5d
DOI: 10.21203/rs.3.rs-40976/v1

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