A 12-Year-Old Girl with a 2-Year History of Progressive Limb Weakness and Difficulties with Exercise
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Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-030-25682-1_30
Reference12 articles.
1. Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R. Sequence of the cDNA and 5′-flanking region for human acid alpha-glucosidase, detection of an intron in the 5′ untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences. DNA Cell Biol. 1990;9(2):85–94.
2. Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. 1999;7(6):713–6.
3. Raben N, Plotz P, Byrne BJ. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med. 2002;2(2):145–66.
4. Orth M, Mundegar RR. Effect of acid maltase deficiency on the endosomal/lysosomal system and glucose transporter 4. Neuromuscul Disord. 2003;13(1):49–54.
5. Gambetti P, DiMauro S, Baker L. Nervous system in Pompe’s disease. Ultrastructure and biochemestry. J Neuropathol Exp Neurol. 1971;30(3):412–30.
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