Erratum to: Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases

@article{Manwaring2011ErratumTU,
  title={Erratum to: Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases},
  author={Victoria Manwaring and Helen Prunty and Katie Bainbridge and Derek Burke and Niamh Finnegan and Rebecca Franses and Amanda Yun Rui Lam and Ashok Vellodi and Simon Heales},
  journal={Journal of Inherited Metabolic Disease},
  year={2011},
  volume={35},
  pages={369-369}
}
In the original published article patient 1 listed in Table 1 is erroneously reported to have a genetic mutation, 10 G06465. The actual genetic information is as follows; the patient is apparently homozygous for the c.265 C>Tunclassified variant in exon 2, and apparently homozygous for the c.877 G>A mutation in exon 5. The c.877 G>A mutation is predicted to cause substitution of glycine with arginine at amino acid position 293 (p.Gly293Arg) and has been reported to be a severe disease-causing… CONTINUE READING