Correlation among Genotype, Phenotype, and Biochemical Markers in Gaucher Disease: Implications for the Prediction of Disease Severity
- 1 January 2002
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 75 (1) , 46-55
- https://doi.org/10.1006/mgme.2001.3269
Abstract
No abstract availableKeywords
This publication has 22 references indexed in Scilit:
- Consequences of Complexity within Biological Networks: Robustness and Health, or Vulnerability and DiseaseMolecular Genetics and Metabolism, 2001
- Modifier Genes Convert “Simple” Mendelian Disorders to Complex TraitsMolecular Genetics and Metabolism, 2000
- Phenotypes of Patients with “Simple” Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems DynamicsAmerican Journal of Human Genetics, 2000
- Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher DiseaseAmerican Journal of Human Genetics, 2000
- Replacement therapy with imiglucerase for type 1 Gaucher's diseaseThe Lancet, 1995
- Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.Journal of Clinical Investigation, 1994
- Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's DiseaseNew England Journal of Medicine, 1991
- HPLC analysis of neutral glycolipids: an aid in the diagnosis of lysosomal storage diseaseClinica Chimica Acta; International Journal of Clinical Chemistry, 1983
- Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: Significant differences between Type I and Type IIIClinical Genetics, 1982
- Blood glucosylceramide levels in gaucher's disease and its distribution amongst lipoprotein fractionsClinica Chimica Acta; International Journal of Clinical Chemistry, 1977