Expanding the clinical utility of glucosylsphingosine for Gaucher disease
Author:
Affiliation:
1. Genetics and Molecular Pathology SA Pathology [at Women's and Children's Hospital] North Adelaide South Australia Australia
2. School of Medicine University of Adelaide Adelaide South Australia Australia
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12192
Reference18 articles.
1. Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
2. Gaucher's Disease in an Asymptomatic 72-Year-Old
3. Perinatal-lethal Gaucher disease
4. Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's Disease
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2. A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment;Acta Neurologica Belgica;2024-02-28
3. Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease;Molecular Genetics and Metabolism;2024-01
4. A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry;Molecular Genetics and Metabolism Reports;2023-12
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