tailieunhanh - Báo cáo y học: " A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): A case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): A case report | Journal of Medical Case Reports BioMed Central Open Access Case report A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia AML bearing monosomy 7 and translocation t 3 8 q26 q24 after 14 years of treatment with granulocyte colony-stimulating factor G-CSF A case report Thomas Schroeder 1 Barbara Hildebrandt2 Ertan Mayatepek3 Ulrich Germing1 and Rainer Haas1 Address Department of Hematology Oncology and Clinical Immunology Heinrich-Heine-University Moorenstr 5 40225 Duesseldorf Germany institute for Human Genetics and Anthropology Heinrich-Heine-University Moorenstr. 5 40225 Duesseldorf Germany and 3Department of General Pediatrics Heinrich-Heine-University Moorenstr. 5 40225 Duesseldorf Germany Email Thomas Schroeder - Barbara Hildebrandt - barbarahildebrandt@ Ertan Mayatepek - mayatepek@ Ulrich Germing - Rainer Haas - Corresponding author Published 30 September 2008 Received II June 2008 Journal of Medical Case Reports 2008 2 319 doi 1752-1947-2-319 Accepted 30 September 2008 This article is available from http content 2 1 319 2008 Schroeder et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Introduction Glycogen storage disease type Ib is an autosomal recessive transmitted disorder of glycogen metabolism caused by mutations in the glucose-6-phosphate translocase gene on chromosome 11q23 and leads to disturbed glycogenolysis as well as gluconeogenesis. Besides hepatomegaly growth retardation hypoglycemia hyperlactatemia hyperuricemia and hyperlipidemia patients suffer from neutropenia associated with .