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Eight novel mutations detected from eight Chinese patients with isovaleric acidemia

Yanhan Li1, Ming Shen2, Ying Jin3

  • 1Department of Laboratory Animal Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China.

Clinica Chimica Acta; International Journal of Clinical Chemistry
|August 24, 2019
PubMed
Abstract

Keywords:
Acute metabolic crisisIVAIVDIsovaleric acidemiaNeonatal death

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