Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-009-9034-5
Reference34 articles.
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3. Besley GT, Walter JH, Lewis MA, Chard CR, Addison GM (1994) Fructose-1, 6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity. J Inherit Metab Dis 17:333–335
4. Buhrdel P, Bohme HJ, Didt L (1990) Biochemical and clinical observations in four patients with fructose-1, 6-diphosphatase deficiency. Eur J Pediatr 149:574–576
5. Burlina AB, Poletto M, Shin YS, Zacchello F (1990) Clinical and biochemical observations on three cases of fructose-1, 6-diphosphatase deficiency. J Inherit Metab Dis 13:263–266
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