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- Recent advances in the diagnosis and management of Gaucher disease.Expert Rev Endocrinol Metab. 2018; 13: 107-118
- Gaucher disease type 3c: new patients with unique presentations and review of the literature.Mol Genet Metab. 2019; 127: 138-146
- Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism.Crit Rev Oncog. 2013; 18: 235-246
- How we manage Gaucher Disease in the era of choices.Br J Haematol. 2018; 182: 467-480
- Cardiac amyloidosis: an update on pathophysiology, diagnosis, and treatment.Trends Cardiovasc Med. 2018; 28: 10-21
- Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature.Ann Hematol. 2008; 87: 439-449
Article Info
Publication History
Footnotes
Funding: Intramural Research Programs of the National Institutes of Health.
Conflict of Interest: None of the authors have any relevant disclosures relating to this case or report.
Authorship: All authors had access to the data and a role in writing the manuscript. ER: Evaluated the patient, drafted the original draft of the manuscript; M-LN: Performed the echo, made the diagnosis, edited and reviewed the paper; GL: Evaluated the patient, reviewed the manuscript; WPB: Performed and interpreted the imaging, reviewed the manuscript; SS: Evaluated the patient, reviewed the manuscript; KM: Evaluated the patient, reviewed the manuscript; CM: Identified and treated the patient; ML: Evaluated the patient, reviewed the manuscript; AC: Evaluated the patient, helped to draft the manuscript; ES: supervised the work, principal investigator of clinical protocol, edited and reviewed the manuscript.
