Browsing Makale Koleksiyonu by Author "Tanzer, F."
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Enzyme Replacement Therapy in an Infant with Pompe's Disease with Severe Cardiomyopathy
Tanzer, F.; Buyukkayhan, D.; Mutlu, E. Cansu; Korkmaz, F. Kalender (WALTER DE GRUYTER GMBH, 2009)Pompe's disease is a glycogen storage disease (type II) characterized by inherited autosomal recessive transmission. A 4 month-old girl presented with rapid disease progression, exhibiting severe hypotonia, and hypertrophic ... -
Neonatal Screening for Biotidinidase Deficiency: Results of a 1-year Pilot Study in Four Cities in Central Anatolia
Tanzer, F.; Sancaktar, M.; Buyukkayhan, D. (WALTER DE GRUYTER GMBH, 2009)Background: Biotin, a water-soluble vitamin, is used as a co-factor by enzymes involved in carboxylation reactions. It functions as the carboxyl carrier for biotin-dependent carboxylases. These enzymes catalyze gluconeogenesis, ...