Titlebook: JIMD Reports, Volume 17; Johannes Zschocke,K. Michael Gibson,Verena Peters Book 2014 SSIEM and Springer-Verlag Berlin Heidelberg 2014 Mend

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Reversible Keratopathy Due to Hypertyrosinaemia Following Intermittent Low-Dose Nitisinone in Alkap. His vision became impaired approximately 7?weeks following the commencement of nitisinone and ophthalmological examination at week nine showed characteristic dendritic keratopathy associated with tyrosinaemia. The corneal lesion as well as his visual symptoms normalized completely following discon

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A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending, an enzyme involved in the glycosaminoglycans (GAGs) degradation. We here report the case of a 9-year-old boy who was diagnosed with an extremely severe form of MPS II at 10 months of age. Sequencing of the . gene revealed the deletion of exons 1–7, extending distally and removing the entire pseudo