Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this si
Splicing mutation causes infantile Sandhoff disease
✍ Scribed by Gomez-Lira, Macarena; Perusi, Chiara; Mottes, Monica; Pignatti, Pier Franco; Rizzuto, Nicol�; Gatti, Rosanna; Salviati, Alessandro
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 15 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980123)75:3<330::aid-ajmg21>3.0.co;2-p
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