## Abstract Dominantly inherited ataxias resulting from different gene mutations are difficult to distinguish based on clinical phenotypes. We believe the phenotypic variability within families can be a clue to clinical diagnosis. We illustrate the range of phenotypes extending from levodopaβrespon
β¦ LIBER β¦
Intrafamilial variability in fucosidosis
β Scribed by P. J. Willems; C. A. Garcia; M. C. H. De Smedt; R. Martin-Jimenez; J. K. Darby; D. A. Duenas; D. Granado-Villar; J. S. O'Brien
- Book ID
- 115089692
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 707 KB
- Volume
- 34
- Category
- Article
- ISSN
- 0009-9163
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