Late-onset GSDII with novel GAA gene mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00785.x/fullpdf
Reference10 articles.
1. Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II;Hesselink;Biochim Biophys Acta,2003
2. A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II);Raben;Hum Mol Genet,1996
3. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II;Boerkoel;Am J Hum Genet,1995
4. Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (−13T→G) mutation in a majority of patients and a novel IVS10 (+1GT→CT) mutation;Huie;Hum Mol Genet,1994
5. Muscular form of glycogenosis, type II (Pompe);Smith;Neurology,1967
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2. Glycogenosis Type 2, Pompe Disease;Genetic Neuromuscular Disorders;2017-10-06
3. Next generation sequencing detection of late onset pompe disease;Muscle & Nerve;2016-04-25
4. Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study;European Journal of Pediatrics;2014-01-07
5. Glycogenosis Type 2, Pompe Disease;Genetic Neuromuscular Disorders;2014
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