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pro vyhledávání: '"Ruben H. de Kleine MD"'
Autor:
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
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
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 w
Externí odkaz:
https://doaj.org/article/f2ff1b5ea3b34fefb121fb6c0a3d63ca
