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Zerebrotendinöse xanthomatose:Eine behandelbare stoffwechselerkrankung
Translated title of the contribution
:
Cerebrotendinous xanthomatosis, a treatable metabolic disorder
R. Heller, A. J. Grau, W. R. Schäbitz,
M. Schwaninger
Institute of Experimental and Clinical Pharmacology and Toxicology
Neurologische Klinik
Ruprecht-Karls Universität Heidelberg
5
Citations (Scopus)
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Neuroscience
Cholestanol
100%
Chenodeoxycholic Acid
100%
Cognitive Disorder
50%
Central Nervous System
50%
Ataxia
50%
Bile Acid
50%
Cataract
50%
Cholestanetriol 26 Monooxygenase
50%
Mitochondrial Enzyme
50%
Autosomal Recessive Disorder
50%
Sterol
50%
Medicine and Dentistry
Cerebrotendinous Xanthomatosis
100%
Chenodeoxycholic Acid
40%
Cholestanol
40%
Prematurity
20%
Early Diagnosis
20%
Cataract
20%
Central Nervous System
20%
Genetic Analysis
20%
Spastic Paraplegia
20%
CYP27A1
20%
Bile Acid Synthesis
20%
Ataxic Gait
20%
Chronic Diarrhea
20%
Deterioration
20%
Autosomal Recessive Disorder
20%
Cognitive Defect
20%