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GLDC基因复合杂合突变致非经典型非酮性高甘氨酸血症家系的临床和遗传学分析

Nonketotic hyperglycinemia (NKH) is an autosomal recessive hereditary disease caused by a defect in the glycine cleavage system and is classified into typical and atypical NKH. Atypical NKH has complex manifestations and is difficult to diagnose in clinical practice. This article reports a family of...

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Bibliografiset tiedot
Julkaisussa:Zhongguo Dang Dai Er Ke Za Zhi
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 中国当代儿科杂志编辑部 2017
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Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7389275/
https://ncbi.nlm.nih.gov/pubmed/29046206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2017.10.011
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