Adult and infantile Gaucher disease in one family: Mutational studies and clinical update
- 31 December 1994
- journal article
- case report
- Published by Elsevier in The Journal of Pediatrics
- Vol. 125 (6) , 919-921
- https://doi.org/10.1016/s0022-3476(05)82010-4
Abstract
No abstract availableKeywords
This publication has 5 references indexed in Scilit:
- Mutations causing gaucher diseaseHuman Mutation, 1994
- Gaucher disease: new molecular approaches to diagnosis and treatmentScience, 1992
- Heterogeneity of Mutations in the Acid β-Glucosidase Gene of Gaucher Disease PatientsDNA and Cell Biology, 1991
- The human glucocerebrosidase gene and pseudogene: Structure and evolutionGenomics, 1989
- Acute neuronopathic (infantile) and chronic nonneuronopathic (adult) Gaucher disease in full siblingsThe Journal of Pediatrics, 1982