Neuronopathic and non‐neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain
- 1 November 1996
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 19 (6) , 798-800
- https://doi.org/10.1007/bf01799179
Abstract
No abstract availableThis publication has 5 references indexed in Scilit:
- Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.Journal of Medical Genetics, 1995
- Gaucher disease in Spanish patients: Analysis of eight mutationsHuman Mutation, 1995
- Glucocerebrosidase Mutations in Gaucher DiseaseMolecular Medicine, 1994
- Three unique base pair changes in a family with Gaucher diseaseHuman Genetics, 1991