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Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases

✍ Scribed by Andrew Del Gaizo; Sima Banerjee; Michael Terk


Publisher
Springer
Year
2009
Tongue
English
Weight
603 KB
Volume
38
Category
Article
ISSN
0364-2348

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Two mutations affecting the transport an
✍ Monique M. P. Hermans; Marian A. Kroos; Esther De Graaff; Ben A. Oostra; Arnold πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 503 KB

The autosomal recessive glycogen storage disease type I1 is associated with a deficiency of lysosomal a-glucosidase (acid maltase). This paper reports on the mutations in the lysosomal a-glucosidase alleles of an adult patient. A G-1927 to A transition was discovered in exon 14 causing the substitut