Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene

著录项

• 来源
  《Journal of pediatric endocrinology & metabolism: JPEM》 |2018年第10期|共5页
• 作者

  Tamara?igman; DanijelaPetkovi? Ramad?a; MarioLu?i?; MarijaZeku?i?; DoroteaNinkovi?; DaniloGardijan; KristinaPoto?ki; LanaOmerza; LucijaBeljan; Kamelija?arkovi?; JenniferKerkhof; MarijaLjubojevi?; Moniquede Sain-van der Velden; JuricaVukovi?; KsenijaFumi?; BekimSadikovi?; IvoBari?;

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• 作者单位

  Department of Pediatrics University Hospital Center Zagreb Ki?pati?eva 12 10000 Zagreb Croatia;

  Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia;

  Department of Radiology University Hospital Center Zagreb Zagreb Croatia;

  Department of Laboratory Diagnostics University Hospital Center Zagreb Zagreb Croatia;

  Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia;

  Department of Radiology University Hospital Center Zagreb Zagreb Croatia;

  University of Zagreb School of Medicine Zagreb Croatia;

  Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia;

  Department of Pathology and Cytology University Hospital Center Zagreb Zagreb Croatia;

  University of Zagreb School of Medicine Zagreb Croatia;

  Department of Pathology and Laboratory Medicine Western University London Health Sciences Centre;

  Institute for Medical Research and Occupational Health Zagreb Croatia;

  Department of Genetics University Medical Centre Utrecht Utrecht The Netherlands;

  Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia;

  Department of Laboratory Diagnostics University Hospital Center Zagreb Zagreb Croatia;

  Department of Pathology and Laboratory Medicine Western University London Health Sciences Centre;

  Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia;

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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

  fetal ascites; fetal MRI; free sialic acid storage disease;

  机译：胎儿腹水;胎儿MRI;游离唾液酸储存疾病;