Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy
Objective: To investigate the clinical and laboratory features of three children with late-onset type Ⅱ glycogen storage disease(GSD) who presented with hypertrophic cardiomyopathy and to analyze the effect of five mutations identified on the acid-α-glucosidase (GAA) activity and stability. Method:...
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Détails bibliographiques
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 55(2017), 6 vom: 02. Juni, Seite 423-427
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| Auteur principal: |
Luo, J H
(Auteur) |
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| Autres auteurs: |
Qiu, W J,
Fang, D,
Ye, J,
Han, L S,
Zhang, H W,
Yu, Y G,
Liang, L L,
Gu, X F |
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| Format: | Article en ligne
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| Langue: | Chinese |
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| Publié: |
2017
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| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Sujets: | Journal Article
Acid α-glucosidase (GAA)
Glycogen storage disease typeⅡ (GSD Ⅱ)
Hypertrophic cardiomyopathy
Mutation
DNA
9007-49-2
alpha-Glucosidases
EC 3.2.1.20
Glucan 1,4-alpha-Glucosidase
EC 3.2.1.3 |
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