Search Results - "Koseci, Burcu"

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  1. 1

    Early diagnostic clues of mucolipidosis type II: Significance of radiological findings by Burgac, Ezgi, Kaplan, İrem, Köseci, Burcu, Kara, Esra, Kor, Deniz, Bulut, Fatma Derya, Atmış, Anıl, Pişkin, Ferhatcan, Tuğ Bozdoğan, Sevcan, Urel Demir, Gizem, İncecik, Faruk, Önenli Mungan, Neslihan

    “…Mucolipidosis type‐II (ML‐II) is an ultra‐rare disorder caused by deficiency of N‐acetylglucosaminyl‐1‐phosphotransferase enzyme due to biallelic pathogenic…”
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    Journal Article
  2. 2

    Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report by Kara, Esra, Kor, Deniz, Bulut, Fatma Derya, Hergüner, Özlem, Ceylaner, Serdar, Köşeci, Burcu, Burgaç, Ezgi, Mungan, Neslihan Önenli

    “…Aldolase A deficiency also known as glycogen storage disease (GSD) XII, is an ultra rare autosomal recessively inherited GSD, associated with hemolytic anemia…”
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    Journal Article
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    Evaluation of bone health in patients with mucopolysaccharidosis by Kor, Deniz, Bulut, Fatma Derya, Kılavuz, Sebile, Şeker Yılmaz, Berna, Köşeci, Burcu, Kara, Esra, Kaya, Ömer, Başaran, Sibel, Seydaoğlu, Gülşah, Önenli Mungan, Neslihan

    Published in Journal of bone and mineral metabolism (01-05-2022)
    “…Introduction This study aimed to evaluate the relationship between clinical findings, height and weight standard deviation scores, 25-hydroxyvitamin D 3…”
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    Journal Article
  5. 5

    Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria by Bulut, Fatma Derya, Kor, Deniz, Kilavuz, Sebile, Cicek, Ebru, Koseci, Burcu, Kara, Esra, Burgac, Ezgi, Kaplan, İrem, Onenli Mungan, Neslihan

    Published in Journal of paediatrics and child health (01-11-2023)
    “…Aim Phenylketonuria (PKU) is an inherited metabolic disorder in which accumulation of phenylalanine (Phe) leads to poor neurological outcomes without…”
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    Journal Article
  6. 6