Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou
Objective: To evaluate and improve the performance of the newborn screening program for primary carnitine deficiency (PCD) based on tandem mass spectrometry and to investigate the incidence of PCD and molecular characteristics of SLC22A5 gene in Guangzhou. Methods: A total of 200 180 neonates born i...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 58(2020), 6 vom: 02. Juni, Seite 476-481
|
|---|
| 1. Verfasser: |
Huang, Y L
(VerfasserIn) |
|---|
| Weitere Verfasser: |
Tang, C F,
Liu, S C,
Sheng, H Y,
Tang, F,
Jiang, X,
Zheng, R D,
Mei, H F,
Liu, L |
|---|
| Format: | Online-Aufsatz
|
|---|
| Sprache: | Chinese |
|---|
| Veröffentlicht: |
2020
|
|---|
| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
|
|---|
| Schlagworte: | Journal Article
Newborn screening
Primary carnitine deficiency
SLC22A5 gene
Variant
SLC22A5 protein, human
Solute Carrier Family 22 Member 5
Carnitine
S7UI8SM58A |
|---|