Y A BIOCHEMICALLY SILENT CASE OF HIBCH DEFICIENCY IN A NEWBORN INFANT DIAGNOSED BY RAPID WHOLE EXOME SEQUENCING AND ENZYMATIC TESTING

著录项

• 来源
  《Molecular genetics and metabolism》 |2018年第3期|共1页
• 作者

  Brucker William; Gubbels Cynthia; Agrawal Pankaj; VanNoy Grace; Yu Timothy; Kritzer Amy;

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• 作者单位

  Harvard Med Sch Boston Childrens Hosp Div Genet &

  Genom Boston MA 02115 USA;

  Harvard Med Sch Boston Childrens Hosp Div Genet &

  Genom Boston MA 02115 USA;

  Harvard Med Sch Boston Childrens Hosp Div Neonatol Boston MA 02115 USA;

  Harvard Med Sch Boston Childrens Hosp Div Genet &

  Genom Boston MA 02115 USA;

  Harvard Med Sch Boston Childrens Hosp Div Genet &

  Genom Boston MA 02115 USA;

  Harvard Med Sch Boston Childrens Hosp Div Genet &

  Genom Boston MA 02115 USA;

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• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 内分泌腺疾病及代谢病;
• 关键词