Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula
Open Access
- 1 January 2012
- journal article
- Published by Springer Science and Business Media LLC in Orphanet Journal of Rare Diseases
- Vol. 7 (1), 17
- https://doi.org/10.1186/1750-1172-7-17
Abstract
No abstract availableKeywords
This publication has 38 references indexed in Scilit:
- Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?Journal of Inherited Metabolic Disease, 2011
- Gaucher disease: frequency of the N370S mutation in the Greek populationClinical Genetics, 2010
- Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in SpainJournal of Human Genetics, 2007
- High frequency of mutation G377S in Brazilian type 3 Gaucher disease patientsBrazilian Journal of Medical and Biological Research, 2006
- Hematologically important mutations: Gaucher diseaseBlood Cells, Molecules, and Diseases, 2005
- Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patientsSeminars in Hematology, 2004
- Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysisAnnals of Human Genetics, 1996
- Type 1 Gaucher Disease: Molecular, Biochemical, and Clinical Characterization of Patients from Northern PortugalBiochemical Medicine and Metabolic Biology, 1993
- Gaucher DiseaseMedicine, 1992
- Interaction between a serum factor and T lymphocytes in gaucher diseaseAmerican Journal of Hematology, 1985