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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Idioma:
Chino
Revista:
Chinese Journal of Perinatal Medicine
Año:
2021
Tipo del documento:
Artículo
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