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Fructose 1,6 diphosphatase deficiency in a Turkish infant

✍ Scribed by Betül Tavil; Tansu Sipahi


Publisher
Springer
Year
2003
Tongue
English
Weight
160 KB
Volume
162
Category
Article
ISSN
0340-6997

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Fructose-1,6-diphosphatase deficiency: g
✍ P. A. Dremsek; M. Sacher; W. Stögmann; R. Gitzelmann; C. Bachmann 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 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