Literature DB >> 11073549

Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease.

D L Stone, N Tayebi, C Coble, E I Ginns, E Sidransky.   

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Year:  2000        PMID： 11073549      PMCID： PMC1734463          DOI： 10.1136/jmg.37.11.e40

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  2 in total

1.  Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.

Authors:  M Elleder
Journal:  J Inherit Metab Dis       Date:  2006-11-02       Impact factor: 4.982

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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