Glucocerebrosidase 2 Gene Deletion Rescues Type 1 Gaucher Disease

Proceedings of the National Academy of Sciences of the United States of America - United States
doi 10.1073/pnas.1400768111
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Proceedings of the National Academy of Sciences

Related search

High Incidence of Cholesterol Gallstone Disease in Type 1 Gaucher Disease: Characterizing the Biliary Phenotype of Type 1 Gaucher Disease

Journal of Inherited Metabolic Disease
Genetics
2010English

The Clinical Management of Type 2 Gaucher Disease

Molecular Genetics and Metabolism
GeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2015English

Isofagomine- And 2, 5-Anhydro-2, 5-Imino-D-Glucitol-Based Glucocerebrosidase Pharmacological Chaperones for Gaucher Disease Intervention

English

Cost-Effectiveness of Enzyme Replacement Therapy for Type 1 Gaucher Disease

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2014English

Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2011English

Gaucher Disease: Isolation and Comparison of Normal and Mutant Glucocerebrosidase From Human Spleen Tissue.

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
1978English

Glucosylsphingosine Accumulation in Type 2 Gaucher Disease Begins Early in Gestation

Pediatric Research
Child HealthPediatricsPerinatology
1999English

Polyneuropathy in Gaucher Disease Type 1 and 3 – A Descriptive Case Series

Scientific Reports
Multidisciplinary
2019English

Mechanism of Glucocerebrosidase Activation and Dysfunction in Gaucher Disease Unraveled by Molecular Dynamics and Deep Learning

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
2019English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy