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Delayed carbamoyl phosphate synthase I deficiency in infants: a case report and literature analysis

Objective To investigate the clinical characteristics and gene mutation of delayed carbamoyl phosphate synthetase I deficiency (CPSID) in infants.Methods The clinical characteristics, cranial magnetic resonance imaging(MRI) and gene detection results were analyzed retrospectively, and the related li...

Whakaahuatanga katoa

I tiakina i:
Ngā taipitopito rārangi puna kōrero
Ngā kaituhi matua: Sha HUANG, Shou-Yi WANG, Li-Hong LIAO, Dong-Chi ZHAO
Hōputu: Artigo
Reo:Chinês
I whakaputaina: Editorial Office of New Medicine 2020-08-01
Rangatū:Yixue xinzhi zazhi
Ngā marau:
Urunga tuihono:https://yxxz.whuznhmedj.com/storage/attach/2008/J8rl6q8pxQn0h2Gi4md5mOqwIfxieIYrj5qTTak0.pdf
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