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A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2
Glycogenosis II (GSDII) is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid alpha-glucosidase and subsequent lysosomal accumulation of glycogen in skeletal, cardiac and smooth muscles. The late-onset form is characterized by wide variability of the phenotypical spe...
Tallennettuna:
| Päätekijät: | , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Medknow Publications & Media Pvt Ltd
2014
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4201016/ https://ncbi.nlm.nih.gov/pubmed/25336838 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0974-8237.142310 |
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