Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening
Objective: To investigate the incidence, clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency (SCADD). Method: From January, 2009 to October, 2015, a retrospective analysis of the urine organic acids and acyl-coenzyme A dehydrogenase (ACADS)...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 54(2016), 12 vom: 02. Dez., Seite 927-930
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| 1. Verfasser: |
Huang, X W
(VerfasserIn) |
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| Weitere Verfasser: |
Zhang, Y,
Yang, J B,
Hong, F,
Qian, G L,
Tong, F,
Mao, H Q,
Huang, X L,
Zhou, X L,
Yang, R L,
Zhao, Z Y |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2016
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Schlagworte: | Journal Article
Acyl-CoA Dehydrogenase
EC 1.3.8.7
Carnitine
S7UI8SM58A |
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