## 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 levodopa‐respon
Intrafamilial variability in lysosomal storage diseases
✍ Scribed by Zlotogora, Joël ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 423 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Carbohydrate Chemistry and Glycobiology have witnessed a rapid expansion during the last few years with the development of numerous new, imaginative and efficient syntheses which provide further insight into structures and biological interactions of glycoconjugates. Glycosylation reactions are widel
Lysosomal storage diseases are a rare but significant cause of non-immune hydrops fetalis (NIHF). In 17 cases of NIHF detected by ultrasound, the activity of five lysosomal enzymes was measured in leukocytes or plasma of 1 ml of fetal blood obtained by cordocentesis. By this approach seven lysosomal
Parkinson's disease is associated with mutations in the glucocerebrosidase gene, which result in the enzyme deficiency causing Gaucher disease, the most common lysosomal storage disorder. We have performed an exhaustive literature search and found that additional lysosomal storage disorders might be