Literature DB >> 26887759

Gaucher's Disease with Cardiac Valve Calcification and Stenosis: A Rare Presentation due to Homozygous p.D409H Mutation in a North Indian Family.

Pulkit Rastogi1, Sandeep Rao1, Jasbir Kaur1, Pankaj Malhotra2, Subhash Varma2, Reena Das3.   

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Year:  2016        PMID： 26887759     DOI： 10.1007/s12098-015-2025-7

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  1342C mutation in Gaucher's disease.

Authors:  E Beutler; C Kattamis; J Sipe; M Lipson
Journal:  Lancet       Date:  1995-12-16       Impact factor: 79.321

2.  Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.

Authors:  A Abrahamov; D Elstein; V Gross-Tsur; B Farber; Y Glaser; I Hadas-Halpern; S Ronen; M Tafakjdi; M Horowitz; A Zimran
Journal:  Lancet       Date:  1995-10-14       Impact factor: 79.321

3.  Gaucher's disease type III C: Unusual cause of intracardiac calcification.

Authors:  Sejal Shah; Amit Misri; Meenakshi Bhat; Sunita Maheshwari
Journal:  Ann Pediatr Cardiol       Date:  2008-07

Review 4.  Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Authors:  Kathleen S Hruska; Mary E LaMarca; C Ronald Scott; Ellen Sidransky
Journal:  Hum Mutat       Date:  2008-05       Impact factor: 4.878

5.  Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

Authors:  A Chabás; B Cormand; D Grinberg; J M Burguera; S Balcells; J L Merino; I Mate; J A Sobrino; R Gonzàlez-Duarte; L Vilageliu
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318
  5 in total
  2 in total

1.  Pharmacotherapy of Gaucher Disease: Current and Future Options.

Authors:  Lunawati L Bennett; Chris Fellner
Journal:  P T       Date:  2018-05

2.  Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study).

Authors:  Cecilia Lazea; Simona Bucerzan; Camelia Al-Khzouz; Anca Zimmermann; Ștefan Cristian Vesa; Ioana Nașcu; Victoria Creț; Mirela Crișan; Carmen Asăvoaie; Diana Miclea; Paula Grigorescu-Sido
Journal:  Diagnostics (Basel)       Date:  2021-05-29
  2 in total

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