Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799352
Reference4 articles.
1. Alvarado LJ, Gasca-Centeno E, Grier RE (1988) Hepatic phosphorylaseb kinase deficiency with normal enzyme activity in leukocytes.J Pediatr 113: 865.
2. Bakker HD, Taminiau AJM, van den Berg JET, Berger R (1991) Hepatic phosphorylaseb kinase deficiency with normal enzyme activity in leukocytes and erythrocytes.J Inher Metab Dis 14: 269–270.
3. Lederer B, van Hoof F, van den Berghe G, Hers HG (1975) Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subject and of patients with type VI glycogen storage disease. A study of phosphorylase kinase deficiency.Biochem J 147: 23–25.
4. Williems PJ, Gerver WJM, Berger R, Fernandes J (1990) The natural history of liver glycogenosis due to phosphorylase kinase deficiency. A longitudinal study of 41 patients.Eur J Pediatr 149: 268.
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