Literature DB >> 3838241

Vascular involvement in type 3 neuronopathic Gaucher's disease.

E R Wilson, N W Barton, J A Barranger.   

Abstract

A 6 3/4-year-old boy with neuronopathic Gaucher's disease died unexpectedly. Autopsy demonstrated unusual vascular findings with the presence of Gaucher's cells and intimal-medial fibrosis in the ascending aorta and widespread acute hemorrhagic necrosis of the left ventricular myocardium. The combination of eccentric, intimal fibrosis of coronary arteries, left ventricular hypertrophy, pulmonary involvement, and anemia probably accounted for this child's death.

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Year:  1985        PMID: 3838241

Source DB:  PubMed          Journal:  Arch Pathol Lab Med        ISSN: 0003-9985            Impact factor:   5.534


  3 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.  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

3.  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
  3 in total

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