Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature

Kabacam G., Kabacam G., TOPÇUOĞLU P., KUZU I., Arat M.

TURKISH JOURNAL OF HEMATOLOGY, cilt.27, sa.3, ss.190-195, 2010 (SCI-Expanded, Scopus, TRDizin) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 3
  • Basım Tarihi: 2010
  • Doi Numarası: 10.5152/tjh.2010.27
  • Dergi Adı: TURKISH JOURNAL OF HEMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.190-195
  • Anahtar Kelimeler: Gaucher disease, glucosylceramidase, treatment, PULMONARY-HYPERTENSION, ENHANCEMENT THERAPIES, HEMATOLOGICAL ASPECTS, RECOMMENDATIONS, PHENOTYPE, MANAGEMENT, DIAGNOSIS
  • Ankara Üniversitesi Adresli: Evet

Özet

Gaucher disease (GD) is the most common lysosomal storage disorder. Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow. Enzyme replacement therapy (ERT) is a standard approach for type 1 GD. Here, we present an adult patient with hematological disorders due to type 1 GD, who markedly improved with ERT. (Turk J Hematol 2010; 27: 190-5)