Recent advances in the diagnosis and management of Gaucher disease
Author:
Affiliation:
1. Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA
Funder
National Human Genome Research Institute
National Institutes of Health
Publisher
Informa UK Limited
Subject
Endocrinology, Diabetes and Metabolism
Link
https://www.tandfonline.com/doi/pdf/10.1080/17446651.2018.1445524
Reference131 articles.
1. Gaucher disease epidemiology and natural history: a comprehensive review of the literature
2. Gaudier patients with oculomotor abnormalities do not have a unique genotype
3. Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
4. Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri
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