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Publications by E Karson

Glucosylsphingosine Accumulation in Type 2 Gaucher Disease Begins Early in Gestation

Pediatric Research
Child HealthPediatricsPerinatology
1999English

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Glucosylsphingosine Is a Reliable Response Biomarker in Gaucher Disease

American Journal of Hematology
Hematology
2018English

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

The Clinical Management of Type 2 Gaucher Disease

Molecular Genetics and Metabolism
GeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2015English

Glucocerebrosidase 2 Gene Deletion Rescues Type 1 Gaucher Disease

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
2014English

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
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2010English

Lung Involvement in Gaucher Disease

Case Reports in Clinical Practice
2020English

Gaucher Disease Type I Complicated With Parkinson's Syndrome

Haematologia
2002English

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

Scientific Reports
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Enzyme Replacement in Gaucher Disease

PLoS Medicine
BiochemistryBiotechnologyMolecular BiologyCell BiologyMedicine
2004English

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