Carregant...

10例原发性肉碱缺乏症新生儿的基因诊断

OBJECTIVE: To study the gene mutation profile of primary carnitine deficiency (PCD) in neonates, and to provide a theoretical basis for early diagnosis and treatment, genetic counseling, and prenatal diagnosis of PCD. METHODS: Acylcarnitine profile analysis was performed by tandem mass spectrometry...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Zhongguo Dang Dai Er Ke Za Zhi
Format: Artigo
Idioma:Inglês
Publicat: 中国当代儿科杂志编辑部 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7389330/
https://ncbi.nlm.nih.gov/pubmed/29132460
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2017.11.005
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!