NEUROLOGY

Chapter 26 – Disorders of Cholesterol Metabolism: Cerebrotendinous Xanthomatosis and Movement Disorders

Oct 19, 2020 by in NEUROLOGY Comments Off on Chapter 26 – Disorders of Cholesterol Metabolism: Cerebrotendinous Xanthomatosis and Movement Disorders

Abstract Bile acids are synthesized via the classic pathway initiated by cholesterol 7-alpha-hydroxylase (CYP7A1) or via alternate pathways, one of which is initiated by sterol 27-hydroxylase (CYP27). Cerebrotendinous xanthomatosis (CTX)…

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Chapter 25 – Vitamin-Responsive Disorders: Biotin–Thiamine-Responsive Basal Ganglia Disease and Movement Disorders

Oct 19, 2020 by in NEUROLOGY Comments Off on Chapter 25 – Vitamin-Responsive Disorders: Biotin–Thiamine-Responsive Basal Ganglia Disease and Movement Disorders

Abstract Biotin–thiamin-responsive basal ganglia disease (BTBGD) is a reversible neurodegenerative disorder that is widely underdiagnosed. Chapter 25 Vitamin-Responsive Disorders: Biotin–Thiamine-Responsive Basal Ganglia Disease and Movement Disorders Albert L. Misko and…

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