Fructose-1,6-diphosphatase deficiency: Diagnosis using leukocytes and detection of heterozygotes with radiochemical and spectrophotometric methods-Reference-Cited by-同舟云学术

Fructose-1,6-diphosphatase deficiency: Diagnosis using leukocytes and detection of heterozygotes with radiochemical and spectrophotometric methods

Published:1985-12 Issue:4 Volume:8 Page:174-177
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Alexander D.,Assaf M.,Khudr A.,Haddad I.,Barakat A.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01805429

Reference12 articles.

1. Alexander, D., Dudin, G., Talj, F., Bitar, F., Deeb, M., Khudr, A., Abboud, M. and Der Kaloustian, V. M. Five related Lebanese individuals with high plasma lysosomal hydrolases: a new defect in mannose-6-phosphate receptor recognition?Am. J. Hum. Genet. 36 (1984) 1001–1014

2. Baker, L. and Wingrad, A. I. Fasting hypoglycemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.Lancet 2 (1970) 13–16

3. Cahill, J. and Kirtley, M. E. FDPase activity in human leucocytes.N. Engl. J. Med. 292 (1975) 212

4. Corbeel, L., Eggermont, E., Eeckels, R., Jaeken, J., Casteels-van Daele, M., Devlieger, H. and Delmotte, B. Recurrent attacks of ketotic acidosis associated with fructose-1,6-diphosphatase deficiency.Acta Paediatr. Belg. 29 (1976) 29–34

5. Der Kaloustian, V. M., Naffah, J. and Loiselet, J. Genetic diseases in Lebanon.Am. J. Med. Genet. 7 (1980) 187–203

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