Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-014-9804-6
Reference17 articles.
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2. Asberg C, Hjalmarson O, Alm J, Martinsson T, Waldenström J, Hellerud C (2010) Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis. J Inherit Metab Dis 33(Suppl 3):S113–S121
3. Baker L, Winegrad A (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet II 13–16
4. 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(3):333–335
5. Bührdel P, Böhme HJ, Didt L (1990) Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency. Eur J Pediatr 149(8):574–576
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