Screening and genetic diagnosis of neonatal inherited metabolic diseases: present and prospects / 中华围产医学杂志
Chinese Journal of Perinatal Medicine
;
(12): 85-88, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-885521
ABSTRACT
Neonatal inherited metabolic diseases (IMD) screening has been widely conducted worldwide. Tandem mass spectrum (MS/MS) is the main procedure of IMD screening. As a new technique, gene sequencing has been put into practice for IMD screening. Nowadays, the morbidity and disease spectrum of IMD in China is still unclear. A summary of general and single morbidity, and disease spectrum of China's IMD from publications of MS/MS screening could provide evidence for establishing neonatal IMD's genetic test and formulation of laws and regulations.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Idioma:
Chinês
Revista:
Chinese Journal of Perinatal Medicine
Ano de publicação:
2021
Tipo de documento:
Artigo
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