Article
Type I Gaucher disease (GDI) in three siblings: enzyme replacement treatment (ERT) required.
Prilozi - 1 Jul 2009
Gucev Z S, Tasic V, Pop-Jordanova N, Kirovski I, Stomnaroska O, Martinova M, Jancevska A, Kremensky I, Sinigerska I
Abstract excerpt
(Full text is available at http://www.manu.edu.mk/prilozi). This is a family of three children, born to healthy Macedonian parents after uneventful pregnancies and delivery. The index child was an eight-year-old girl admitted for abdominal discomfort and distension: the spleen was 14cm below the costal margin (BCM), the liver 8cm BCM. No bone pain or pathology was reported. There was mild pancytopaenia...
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