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Gaucher disease type 3c: New patients with unique presentations and review of the literature

  • Published:2019-06 Issue:2 Volume:127 Page:138-146
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Kurolap Alina,del Toro Mireia,Spiegel Ronen,Gutstein Ariel,Shafir Gideon,Cohen Ian J.,Barrabés José A.,Feldman Hagit Baris

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference40 articles.

1. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history;Baris;Pediatr. Endocrinol. Rev.,2014

2. Gaucher disease: clinical, biological and therapeutic aspects;Dandana;Pathobiology,2016

3. Understanding the natural history of Gaucher disease;Mistry;Am. J. Hematol.,2015

4. Unusual expression of Gaucher’s disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation;Chabás;J. Med. Genet.,1995

5. Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype;Abrahamov;Lancet (London, England),1995

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