Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease-Reference-Cited by-同舟云学术

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Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease

Published:2018-11 Issue:10 Volume:40 Page:876-883
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Kang Lulu,Wang Yu,Gao Xiaolan,Qiu Wenjuan,Ye Jun,Han Lianshu,Gu Xuefan,Zhang Huiwen

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference31 articles.

1. Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins;Motta;Hum Mol Genet,2014

2. Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations;Mattosova;Isr Med Assoc J,2015

3. Clinical, biochemical and molecular characterization of prosaposin deficiency;Motta;Clin Genet,2016

4. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles;Choy;Blood Cells Mol Dis,2007

5. Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes;Orenstein;Orphanet J Rare Dis,2014

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2. Use of Ambroxol as Therapy for Gaucher Disease;JAMA Network Open;2023-06-21

3. Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes;Molecular Genetics and Metabolism;2021-02

4. Gaze Palsy, Organomegaly, and Inspiratory Stridor: A Diagnostic Triad;Indian Journal of Pediatrics;2020-09-11

5. High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified;Clinica Chimica Acta;2020-07

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