Search Results - "Yıldırım, Gözde Atasever"

P433 An interesting case diagnosed as both phenylketonuria and maternal phenylketonuria by Öz, Sibel, Kor, Deniz, Kılavuz, Sebile, Bulut, Fatma Derya, Yılmaz, Berna Şeker, Demir, Fadli, Kartal, Tuğçe Özakçaoğlu, Yıldırım, Gözde Atasever, Neslihan Önenli Mungan, Halise

“…IntroductionPhenylketonuria (PKU) is the most common and autosomal recessively inherited metabolic disease due to the deficiency of phenylalanine hydroxylase…”
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Evaluation of Post-Infectious Glomerulonephritis: Single Center Experience by ATASEVER YILDIRIM, Gözde, TANER, Sevgin

“…Aim: Post-infectious glomerulonephritis (PIGN) is an acute glomerulonephritis, often develops after infections with nephritogenic strains of group A beta…”
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GP287 Fanconi bickel syndrome and renal tubular dysfunction by Yildirim, Gözde Atasever, Bulut, Fatma Derya, Atmiş, Bahriye, Kilavuz, Sebile, Kör, Deniz, Bayazit, Aysun Karabay, Neslihan Önenli Mungan, Halise

“…IntroductionFanconi Bickel Syndrome (FBS) is a rare autosomal recessively inherited inborn error of metabolism due to impaired utilization of glucose and…”
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Novel EXT1 variants cause divergent symptom severity in multiple cartilaginous exostoses: a family report by Atasever Yildirim, Gozde, Anlas, Ozlem, Kisla Ekinci, Rabia Miray

“…Background Multiple cartilaginous exostoses (MCE) are a rare genetic disorder characterized by multiple osteochondromas in the metaphysis of long bones. Case…”
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