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TEKRARLAYAN ŞİDDETLİ RABDOMİYOLİZİN İHMAL EDİLEN NEDENİ, LPIN1 GEN DEFEKTİ: TÜRKİYE'DEN İLK VAKA.
- Published in:
- Journal of Pediatric Emergency & Intensive Care Medicine / Çocuk Acil ve Voğun Bakım Dergisi, 2018, v. 5, p. 300
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- Article
Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 4, p. 569, doi. 10.1515/jpem-2019-0307
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- Article
Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 1, p. 157, doi. 10.1515/jpem-2019-0377
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- Article
A neglected cause of recurrent rhabdomyolysis, LPIN1 gene defect: a rare case from Turkey.
- Published in:
- Turkish Journal of Pediatrics, 2020, v. 62, n. 4, p. 647, doi. 10.24953/turkjped.2020.04.015
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- Article
Two Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures.
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- Journal of Pediatric Research, 2016, v. 3, n. 2, p. 113, doi. 10.4274/jpr.25338
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- Article
Dallı Zincirli Aminoasidopati Sonucu Gelişen Organik Asidemiler: Ege Tıp Deneyimi.
- Published in:
- Journal of Pediatric Research, 2016, v. 3, n. 2, p. 76, doi. 10.4274/jpr.76598
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- Article