Gaucher-kór: patogenezis, diagnózis, kezelés.

Translated title of the contribution: Gaucher's disease: pathogenesis, diagnosis and therapy

István Pregun, Zsolt Tulassay

Research output: Contribution to journalReview article

1 Citation (Scopus)

Abstract

Gaucher's disease is the most common lysosomal storage disorder. Gene defect leads to deficiency or decreased activity of glucocerebrosidase followed by the accumulation of glucosylceramide. Most frequently hepatosplenomegaly, anemia, skeletal and hematological abnormalities are present. Different types are known based on the clinical findings. Recently used enzyme replacement therapy seems to eliminate bone marrow transplantation and has favourable effects on symptoms and outcome. Development of gene therapy (reintroduction of missing DNA sequence) hints the possibility of real causal therapy of the disease.

Translated title of the contributionGaucher's disease: pathogenesis, diagnosis and therapy
Original languageHungarian
Pages (from-to)1883-1890
Number of pages8
JournalOrvosi hetilap
Volume145
Issue number37
Publication statusPublished - Sep 12 2004

ASJC Scopus subject areas

  • Medicine(all)

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