Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients-Reference-Cited by-同舟云学术

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Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients

Published:2007-11 Issue:3 Volume:39 Page:348-352
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

Suwannarat P.,Keeratichamroen S.,Wattanasirichaigoon D.,Ngiwsara L.,Cairns J.R.K.,Svasti J.,Visudtibhan A.,Pangkanon S.

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference15 articles.

1. The human glucocerebrosidase gene and pseudogene: structure and evolution;Horowitz;Genomics,1989

2. A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder;Zimran;J. Clin. Invest.,1990

3. High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease;Sorge;J. Clin. Invest.,1990

4. Gaucher's disease: a paradigm for interventional genetics;Germain;Clin. Genet.,2004

5. Hematologically important mutations: Gaucher disease;Beutler;Blood Cells Mol. Diseases,2005

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1. Comprehensive and long‐term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3;Pediatric Blood & Cancer;2022-12-23

2. A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency;BMC Pediatrics;2022-04-29

3. Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients;Orphanet Journal of Rare Diseases;2021-12

4. Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy;Molecular Genetics and Metabolism;2019-02

5. Fifty years of protein research: Personal experiences;ScienceAsia;2018

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