Objective: To investigate the clinical, biochemical and genetic features of four carnitine-acylcarnitine translocase deficiency cases. Methods: Four cases diagnosed with carnitine-acylcarnitine translocase deficiency from Guangxi Maternal and Child Health Hospital were studied. DNA was extracted fro...
Détails bibliographiques
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 7 vom: 02. Juli, Seite 545-549
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| Auteur principal: |
Fan, X
(Auteur) |
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| Autres auteurs: |
Xie, B B,
Zhang, Q,
Yi, S,
Geng, G X,
Yang, Q,
Luo, J S,
Wang, J,
Li, C,
Chen, S K,
Shen, Y P |
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| Format: | Article en ligne
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| Langue: | Chinese |
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| Publié: |
2018
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| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Sujets: | Case Reports
Journal Article
Carnitine acyltransferases
Metabolism, inborn errors
Membrane Transport Proteins
SLC25A20 protein, human
EC 2.3.1.
Carnitine Acyltransferases
EC 2.3.1.-
Carnitine
S7UI8SM58A |
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