Gaucher disease: complexity in a “simple” disorder
Top Cited Papers
- 1 September 2004
- journal article
- review article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 83 (1-2) , 6-15
- https://doi.org/10.1016/j.ymgme.2004.08.015
Abstract
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This publication has 70 references indexed in Scilit:
- Neuropathology provides clues to the pathophysiology of Gaucher diseaseMolecular Genetics and Metabolism, 2004
- Phenotypic continuum in neuronopathic gaucher disease: an intermediate phenotype between type 2 and type 3The Journal of Pediatrics, 2003
- Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?Molecular Genetics and Metabolism, 2003
- Beyond Mendel: an evolving view of human genetic disease transmissionNature Reviews Genetics, 2002
- Gaucher Disease and Parkinsonism: A Phenotypic and Genotypic CharacterizationMolecular Genetics and Metabolism, 2001
- Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion geneHuman Genetics, 2000
- Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher DiseaseAmerican Journal of Human Genetics, 2000
- Metaxin Is a Component of a Preprotein Import Complex in the Outer Membrane of the Mammalian MitochondrionJournal of Biological Chemistry, 1997
- Occurrence of Parkinson's syndrome in type 1 Gaucher diseaseQJM: An International Journal of Medicine, 1996
- Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.Journal of Clinical Investigation, 1994