Browsing Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu by Type "info:eu-repo/semantics/bookPart"
Now showing items 1-5 of 5
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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 ... -
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 ... -
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 ...