Titlebook: JIMD Reports, Volume 30; Eva Morava,Matthias Baumgartner,Verena Peters Book 2016 SSIEM and Springer-Verlag Berlin Heidelberg 2016 inherite

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A New Approach for Fast Metabolic Diagnostics in CMAMMA,fection. MA excretion in the patients was only just above the highest control value in several samples. MA concentrations in plasma from the two patients were clearly above the highest value observed in control subjects. However, MA concentrations in plasma from patients with classic MMAemia were al

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Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VI,mediated reaction. It is important to recognize IgE-mediated reactions since they can be life-threatening and do not respond to the standard therapies. We recommend allergy skin tests in the evaluation of infusion-related reactions unresponsive to standard therapies, so that continuation of ERT will

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Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Hete valine were markedly elevated and alloisoleucine was detected. He promptly responded to dialysis and BCAA-free dietetic management and subsequently could resume a normal diet. Since then he has had another symptomatic metabolic crisis with seizures. This case strongly suggests that some recipients

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