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Now showing items 41-45 of 45
Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause Of Neonatal Death, Explained By Tpit Gene Mutations
(Endocrine Soc, 2005)
Tpit is a T box transcription factor important for terminal differentiation of pituitary proopiomelanocortin-expressing cells. We demonstrated that human and mouse mutations of the TPIT gene cause a neonatal-onset form of ...
Secondary Hemophagocytic Lymphohistiocytosis in Turkish Children
(Lippincott Williams & Wilkins, 2005)
: Between January 1998 and January 2005, a total of 18
children 2 weeks–72 months of age were diagnosed as having
secondary hemophagocytic lymphohistiocytosis. The frequency of
secondary hemophagocytic lymphohistiocytosis ...
E148Q is a Disease-Causing Mefv Mutation: A Phenotypic Evaluation in Patients With Familial Mediterranean Fever
(BMJ, 2005)
Background: Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as ...
Giant Axonal Neuropathy: Clinical And Genetic Study In Six Cases
(BMJ, 2005)
Background: Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly'' hair. The ...
Gastrointestinal Involvement In Poems Syndrome: A Novel Clinical Manifestation
(BMJ, 2005)
POEMS syndrome ( polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) is characterised by a rare multisystem disorder of unknown pathogenesis. Although its pathophysiology is not well ...