Analysis of the regional distribution differences of common variations of the MMACHC gene in cblC methylmalonic acidemia patients
Objective: To analyze regional differences in MMACHC gene variations among patients with cblC-type methylmalonic acidemia (MMA) in China and to explore the relationship between these variations and neonatal screening, biochemical markers and prognosis. Methods: Retrospective case summary. Clinical a...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 62(2024), 11 vom: 02. Nov., Seite 1076-1082
|
|---|
| 1. Verfasser: |
Deng, Y X
(VerfasserIn) |
|---|
| Weitere Verfasser: |
Hao, L L,
Ding, S,
Ding, Y,
Qiu, W J,
Zhang, H W,
Liang, L L,
Zhang, K C,
Yang, Y,
Wang, R F,
Gu, X F,
Han, L S |
|---|
| Format: | Online-Aufsatz
|
|---|
| Sprache: | Chinese |
|---|
| Veröffentlicht: |
2024
|
|---|
| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
|
|---|
| Schlagworte: | English Abstract
Journal Article
MMACHC protein, human
EC 1.-
Carbon-Carbon Ligases
EC 6.4.-
Oxidoreductases |
|---|