| 概要 |
Glycogen storage disease type IV (GSD-IV), also known as Andersen disease, is an autosomal recessive disorder of glycogen metabolism. GSD-IV is caused by mutations in the GBE1 gene, which encodes the glycogen branching enzyme. The typical presentation is liver disease of childhood, progressing to lethal cirrhosis.
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| 著者 |
Alegria A, Martins E, Dias M, Cunha A, Cardoso ML, Maire I |
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| 著者 |
Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffre B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C |
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