Article
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
American journal of medical genetics - 6 Aug 1998
Hinson D D, Rogers Z R, Hoffmann G F, Schachtele M, Fingerhut R, Kohlschutter A, Kelley R I, Gibson K M
Abstract excerpt
We describe two patients with mevalonate kinase deficiency and prominent hematologic abnormalities and cholestatic liver disease. Patient R.B. was not anemic at birth, but developed petechiae and cutaneous extramedullary hematopoiesis, hepatosplenomegaly, leukocytosis, and recurrent febrile events without positive bacterial or viral cultures. Patient N.M. manifested minor anomalies, hepatosplenomegaly, anemia,...
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