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Orthotopic Liver Transplantation in Glycogen Storage Disease Type 1a

Glycogen storage disease type 1a (GSD 1a) is a rare inborn error of metabolism. It causes severe fasting intolerance and lactic acidosis due to the deficiency of glucose-6-phosphatase enzyme. Blood glucose and lactate concentrations from 2 patients with GSD 1a were retrospectively compared to a cont...

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Autors principals: Matheus V. M. B. Wilke BSc, Ruben H. de Kleine MD, J. K. G. Wietasch MD, PhD, Cynthia C. A. van Amerongen BSc, Hans Blokzijl MD, PhD, Francjan J. van Spronsen MD, PhD, Ida V. D. Schwartz MD, PhD, Terry G. J. Derks MD, PhD
Format: Artigo
Idioma:Inglês
Publicat: Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) 2016-05-01
Col·lecció:Journal of Inborn Errors of Metabolism and Screening
Accés en línia:https://doi.org/10.1177/2326409816649599
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