Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13

著录项

• 来源
  《Journal of pediatric endocrinology & metabolism: JPEM》 |2020年第1期|共7页
• 作者

  Melis DemirK?se; MehtapKagnici; Taha Re?it?zdemir; Cahit Bar??Erdur; GülinErdemir; MirayKarakoyun; Yi?itGuzin; SerdarCeylaner; FerahGenel;

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• 作者单位

  Beh?et Uz Children Research and Training Hospital Pediatric Metabolism and Nutrition Department;

  Beh?et Uz Children Training and Research Hospital Pediatric Metabolism and Nutrition Department;

  Tepecik Training and Research Hospital Genetics Department Izmir Turkey;

  Beh?et Uz Children Training and Research Hospital Pediatric Gastroenterology Hepatology and;

  Beh?et Uz Children Training and Research Hospital Pediatric Gastroenterology Hepatology and;

  Tepecik Children Training and Research Hospital Pediatric Gastroenterology Hepatology and;

  Beh?et Uz Children Training and Research Hospital Pediatrics Department Izmir Turkey;

  INTERGEN Genetic Diagnosis Center Ankara Turkey;

  Beh?et Uz Children Training and Research Hospital Pediatric Allergy and Immunology Department;

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• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 儿科学;
• 关键词

  autism spectrum disorder; cholestasis; citrin deficiency; CTLN2; delirium; FTTCD; liver failure; NICCD; SLC25A13;

  机译：自闭症谱系;胆汁淤积;Citrin缺乏;CTLN2;谵妄;FTTCD;肝功能衰竭;Niccd;SLC25A13;