INTRAKRANIAL KANAMA PDF

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Congenital amegakaryocytic thrombocytopenia CAMT generally begins at birth with severe thrombocytopenia and progresses to pancytopenia. It is caused by mutations in the thrombopoietin receptor gene, the myeloproliferative leukemia virus oncogene c-MPL. Patients with CAMT have been categorized according to their clinical symptoms caused by different mutations. Missense mutations of c-MPL have been classified as type II and these patients have delayed onset of bone marrow failure compared to type I patients.

Here we present a girl with severe clinical course of CAMT II having a missense mutation in exon 4 of the c-MPL gene who was admitted to our hospital with intracranial hemorrhage during the newborn period.

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Create a file for external citation management software Create file Cancel. Full-text links Cite Favorites. Abstract in English , Turkish. Figures Figure 1. Progression of bone marrow failure…. Figure 1. Progression of bone marrow failure in a child with CAMT. A, B, C-…. See this image and copyright information in PMC. Ghauri RI, et al.

J Coll Physicians Surg Pak. PMID: Congenital amegakaryocytic thrombocytopenia CAMT presenting as severe pancytopenia in the first month of life. Stoddart MT, et al. Pediatr Blood Cancer. Epub Apr Eshuis-Peters E, et al. Epub Feb 8. Implications of mutations in hematopoietic growth factor receptor genes in congenital cytopenias.

Germeshausen M, et al. Ann N Y Acad Sci. PMID: Review. Klin Padiatr. Show more similar articles See all similar articles. References Ballmaier M, Germeshausen M. Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. Semin Thromb Hemost.

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Congenital amegakaryocytic thrombocytopenia. Advances in the understanding of congenital amegakaryocytic thrombocytopenia. Br J Haematol. Publication types Case Reports Actions.

Consanguinity Actions. Female Actions. Humans Actions. Infant, Newborn Actions. Substances Receptors, Thrombopoietin Actions. MPL protein, human Actions. Thrombopoietin Actions. Supplementary concepts Congenital amegakaryocytic thrombocytopenia Actions.

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Translation of "hemorrhage" in Turkish

Congenital amegakaryocytic thrombocytopenia CAMT generally begins at birth with severe thrombocytopenia and progresses to pancytopenia. It is caused by mutations in the thrombopoietin receptor gene, the myeloproliferative leukemia virus oncogene c-MPL. Patients with CAMT have been categorized according to their clinical symptoms caused by different mutations. Missense mutations of c-MPL have been classified as type II and these patients have delayed onset of bone marrow failure compared to type I patients.

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