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

Author:

Abrahamov A.,Elstein D.,Zimran A.,Farber B.,Glaser Y.,Gross-Tsur V.,Hadas-Halpern I.,Ronen S.,Horowitz M.,Tafakjdi M.

Publisher

Elsevier BV

Subject

General Medicine

Reference19 articles.

1. Glucosylceramide lipidosis: Gaucher disease;Beutler,1995

2. Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene;Theophilus;Nucleic Acids Res,1989

3. Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients;Horowitz;Am J Hum Genet,1993

4. Oculomotor apraxia: the presenting sign of Gaucher's disease;Gross-Tsur;Pediatr Neurol,1989

5. Gaucher disease of the lung causing severe pulmonary hypertension with associated acute recurrent pericarditis;Roberts;Circulation,1967

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