Search Result "Gaucher disease."


Review Article

Involvement of Gaucher Disease Mutations in Parkinson Disease

Journal: Current Protein & Peptide Science
Volume: 18 Issue: 7 Year: 2017 Page: 758-764
Author(s): Lluisa Vilageliu,Daniel Grinberg

Recent Advances in Treatment Approaches to Gaucher Disease

Journal: Current Pharmaceutical Biotechnology
Volume: 12 Issue: 6 Year: 2011 Page: 854-860
Author(s): Deborah Elstein, Ari Zimran

Case Report

Massive Splenomegaly with Pancytopenia in an Adult: Gaucher's Disease

Journal: Cardiovascular & Hematological Disorders-Drug Targets
Volume: 23 Issue: 2 Year: 2023 Page: 136-140
Author(s):

Case Report

Case Report: Novel Pathogenic Variant Detected in Two Siblings withType 1 Gaucher Disease

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 14 Year: 2023 Page: 1780-1783
Author(s):

Case Report

Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease ina 46-Year-Old Man with a Rare GBA Mutation: A Case Report

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 2 Year: 2023 Page: 230-234
Author(s): Oktay Halit Aktepe,Selin Ardalı Düzgün,Serap Dökmeci Emre,Hatice Serap Sivri

Research Article

Ambroxol Chaperone Therapy for Gaucher Disease Type I-Associated LiverCirrhosis and Portal Hypertension: A Case Report

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 22 Issue: 6 Year: 2022 Page: 658-662
Author(s): Run-Ping Gao,Wei Zhang,Shi-Yuan Cui,Mei-Fang Zheng,Peng Zhang

Review Article

Chaperone Therapy: New Molecular Therapy for Protein Misfolding Diseases with Brain Dysfunction

Journal: Current Bioinformatics
Volume: 11 Issue: 4 Year: 2016 Page: 421-429
Author(s): Yoshiyuki Suzuki,Kousaku Ohno,Aya Narita

Treatment of Lysosomal Storage Diseases: Recent Patents and Future Strategies

Journal: Recent Patents on Endocrine, Metabolic & Immune Drug Discovery
Volume: 8 Issue: 1 Year: 2014 Page: 9-25
Author(s): Saida Ortolano,Irene Vieitez,Carmen Navarro,Carlos Spuch

Hematopoietic Stem Cell Transplant in Inherited Genetic Diseases

Ebook: Recent Advances in Molecular and Translational Medicine: Updates in Precision Medicine
Volume: 1 Year: 2021
Author(s): Usanarat Anurathapan,Suradej Hongeng
Doi: 10.2174/9789815036756121010015

Optimization and Validation of Two Miniaturized Glucocerebrosidase Enzyme Assays for High Throughput Screening

Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 11 Issue: 1 Year: 2008 Page: 817-824
Author(s): Daniel J. Urban, Wei Zheng, Ozlem Goker-Alpan, Ajit Jadhav, Mary E. LaMarca, James Inglese, Ellen Sidransky, Christopher P. Austin

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