Fructose-1,6-diphosphatase deficiency: g
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P. A. Dremsek; M. Sacher; W. StΓΆgmann; R. Gitzelmann; C. Bachmann
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Article
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1985
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Springer
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English
β 195 KB
A Turkish boy had suffered since the age of 10 months from recurrent attacks of severe metabolic acidosis and hypoglycaemia precipitated by moderate respiratory tract infections. A liver biopsy showed lack of fructose 1,6-diphosphatase and absence of phosphorylase. The patient died in shock followin