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Neurology, ISSN 0028-3878, 01/2019, Volume 92, Issue 2, pp. 61 - 62
Cerebrotendinous xanthomatosis (CTX; Online Mendelian Inheritance in Man No. 213700) is an autosomal recessive disorder due to pathogenic variant in the... 
CLINICAL NEUROLOGY
Journal Article
1980, 2d ed., ISBN 9780136427100, xvii, 782
Book
Neurology, 12/2018
Journal Article
Blood, ISSN 0006-4971, 11/2013, Volume 122, Issue 21, pp. 714 - 714
Abstract Metachromatic Leukodystrophy (MLD) is a rare demyelinating disease caused by deficient lysosomal arylsulfatase-A (ARSA) activity and resulting... 
Journal Article
2011, International review of child neurology series, ISBN 1907655417
Web Resource
The New England Journal of Medicine, ISSN 0028-4793, 10/2017, Volume 377, Issue 17, pp. 1630 - 1638
Journal Article
Annals of Neurology, ISSN 0364-5134, 02/2001, Volume 49, Issue 2, pp. 186 - 194
Our objective was to study the phenotype evolution of X‐linked adrenoleukodystrophy (X‐ALD) and the relation between axonal degeneration and cerebral... 
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2016, Volume 117, Issue 3, pp. 313 - 321
Journal Article
ANNALS OF NEUROLOGY, ISSN 0364-5134, 02/2001, Volume 49, Issue 2, pp. 186 - 194
Journal Article