Tür "info:eu-repo/semantics/bookPart" Tıp Fakültesi için listeleme
Toplam kayıt 13, listelenen: 1-13
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A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV
(Springer-Verlag Berlin, 2014)Human chitinolytic enzyme named "chitotriosidase" takes part in the defense mechanism against pathogens and the homeostasis of innate immunity. Chitotriosidase was firstly reported to be markedly high in plasma of patients ... -
A Rare Galactosemia Complication: Vitreous Hemorrhage
(Springer-Verlag Berlin, 2012)Galactosemia is a secondary glycosylation disorder characterized by galactose deficiency of glycoproteins and glycolipids. Abnormal glycosylation of coagulation factors and evidence of liver disease are associated with ... -
Cobalamin C Disease Missed By Newborn Screening In A Patient With Low Carnitine Level
(Springer-Verlag Berlin, 2015)Cobalamin C (CblC) disease is the most common inherited disorder of intracellular cobalamin metabolism. It is a multisystemic disorder mainly affecting the eye and brain and characterized biochemically by methylmalonic ... -
Congenital Breast Malformations
(Springer-Verlag London Ltd, 2010)Congenital breast deformities pose a challenging dilemma in plastic surgery. The expression of the abnormality maybe complete, and anatomic components are often missing, deformed, or weakened. Most breasts are naturally ... -
Covid-19 Pandemi Raporu (20 Mart-20 Kasım 2020)
(Hacettepe İç Hastalıkları Derneği, 2021)31 Aralık 2019 tarihinde Çin’de ortaya çıkan ve kısa sürede tüm dünyayı etkileyen SARS-Coronavirus-2 etkenine bağlı COVID-19’un Dünya Sağlık Örgütü tarafından pandemi ilan edildiği dönem ile eş zamanlı olarak, ülkemizde ... -
Experimental Composite Tissue Transplantation Models
(Springer-Verlag London Ltd, 2010)Advanced microsurgical techniques have allowed performing different composite tissue allotransplantations (CTA), although immunology and pharmacotherapy still have many unresolved questions. Different CTA models were ... -
Mucormycosis
(2014) -
Mutation Spectrum Of Fumarylacetoacetase Gene And Clinical Aspects Of Tyrosinemia Type I Disease
(Springer-Verlag Berlin, 2011)Tyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. This study examined the spectrum of FAH gene mutation in 32 patients with ... -
Novel Mutations In The Pc Gene In Patients With Type B Pyruvate Carboxylase Deficiency
(Springer-Verlag Berlin, 2013)We have investigated seven patients with the type B form of pyruvate carboxylase (PC) deficiency. Mutation analysis revealed eight mutations, all novel. In a patient with exon skipping on cDNA analysis, we identified a ... -
Peripheral Nerve Injuries
(Springer-Verlag London Ltd, 2010)There are different types of peripheral nerve problems that include nerve trauma, compression, tumors, and so on, and repair of peripheral nerve injuries continues to be a major challenge in reconstructive surgery. ... -
Phlebotomus Fever-Sandfly Fever
(2014) -
Pregnancy and Lactation Outcomes in a Turkish Patient With Lysinuric Protein Intolerance
(Springer-Verlag Berlin, 2014)Maternal lysinuric protein intolerance (LPI) is associated with increased risk of anemia, toxemia, and retarded growth in fetus during pregnancy, and bleeding complications during delivery. There has been limited number ...
