ASS1 gene mutation in a neonate with citrullinemia type Ⅰ
Objective To detect blood acylcarnitine and genes in a newborn with suspected citrullinemia, and to detect gene mutations in their parents, so as to clarify their diagnosis and follow-up investigations. Methods Genetic metabolic diseases were screened in the newborn baby using tandem mass spectrom...
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| Format: | Article |
| Language: | zho |
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Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College.
2020-10-01
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| Series: | Jichu yixue yu linchuang |
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| Online Access: | http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/a200414.pdf |