Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening
OBJECTIVE: 3-Methylcrotonyl-coenzyme A carboxylase deficiency (MCCD) is an autosomal recessive inborn error of leucine catabolism. The cases suspected as MCCD detected by neonatal screening are not rare. The aim of the study was to investigate the clinical outcomes in cases suspected as MCCD by neon...
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 52(2014), 6 vom: 04. Juni, Seite 409-14 |
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| Auteur principal: | |
| Autres auteurs: | , , , , , , , |
| Format: | Article |
| Langue: | Chinese |
| Publié: |
2014
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| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Sujets: | Journal Article Research Support, Non-U.S. Gov't 3-hydroxyisovalerylcarnitine Carbon-Carbon Ligases EC 6.4.- methylcrotonoyl-CoA carboxylase EC 6.4.1.4 Carnitine S7UI8SM58A |