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Publications by Joan Keutzer

Glucocerebrosidase 2 Gene Deletion Rescues Type 1 Gaucher Disease

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

A Pilot Newborn Screening Program for Mucopolysaccharidosis Type I in Taiwan

Orphanet Journal of Rare Diseases

English

Related publications

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

English

The Clinical Management of Type 2 Gaucher Disease

Molecular Genetics and Metabolism

Molecular Biology

English

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

English

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

Internal Medicine

Molecular Biology

English

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

English

Glucosylsphingosine Accumulation in Type 2 Gaucher Disease Begins Early in Gestation

Pediatric Research

English

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

Scientific Reports

Multidisciplinary

English

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

English