Children with type 1 Gaucher disease: Changing profiles in the 21st century
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference20 articles.
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3. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention;Mistry;Am. J. Hematol.,2007
4. Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases;Zuckerman;JAMA,2007
5. ACMG Work Group on diagnostic confirmation of lysosomal storage diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals;Wang;Genitourin. Med.,2011
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1. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?;Molecular Genetics and Metabolism;2022-05
2. Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience;European Journal of Medical Genetics;2021-11
3. Cardiopulmonary assessment of patients diagnosed with Gaucher’s disease type I;Molecular Genetics & Genomic Medicine;2021-07-18
4. Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study);Diagnostics;2021-05-29
5. Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease;Journal of Clinical Medicine;2019-10-11
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