Impact of glycogen storage disease type I on adult daily life: a survey

Impact of glycogen storage disease type I on adult daily life: a survey

Abstract Background Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined carbohydrate intake and the use of complex carboh...

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Bibliographic Details
Main Authors: Sven F. Garbade, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas, Sarah C. Grünert
Format: Article
Language:English
Published: BMC 2021-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Glycogen storage disease type I
Glucose-6-phosphatase
Glucose-6-phosphate transporter
Coping
Quality of life
Disease burden
Online Access:https://doi.org/10.1186/s13023-021-02006-w

Internet

https://doi.org/10.1186/s13023-021-02006-w

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