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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 2/2015

01-03-2015 | Images in Metabolic Medicine

Look carefully to the heels! A potentially treatable cause of spastic paraplegia

Authors: Jonas Alex Saute, Roberto Giugliani, Louise S. Merkens, John (Pei-Wen) Chiang, Andrea E. DeBarber, Carolina Fischinger Moura de Souza

Published in: Journal of Inherited Metabolic Disease | Issue 2/2015

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Abstract

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Literature
Cali JJ, Hsieh CL, Francke U et al (1991) Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 266:7779–7783PubMed
Guyant-Maréchal L, Verrips A, Girard C et al (2005) Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. Am J Med Genet A 139:114–117CrossRef
Verrips A, Nijeholt GJ, Barkhof F et al (1999) Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis. Brain 122:1589–1595CrossRefPubMed
Metadata
Title
Look carefully to the heels! A potentially treatable cause of spastic paraplegia
Authors
Jonas Alex Saute
Roberto Giugliani
Louise S. Merkens
John (Pei-Wen) Chiang
Andrea E. DeBarber
Carolina Fischinger Moura de Souza
Publication date
01-03-2015
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 2/2015
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-014-9745-0

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