Differential diagnosis of the type of glycogen disease in two adult patients with long history of glycogenosis

Autor: F. Huijing, S. Van Creveld
Rok vydání: 1964
Předmět:
Zdroj: Metabolism. 13:191-194
ISSN: 0026-0495
DOI: 10.1016/0026-0495(64)90132-5
Popis: A number of determinations, including enzyme determinations in white and red blood cells, have been performed in 2 patients with glycogen storage disease who were described in 1928 and 1932 for the first time. From these tests it is concluded that both patients have a deficiency of debranching enzyme (type III glycogenosis) and not of glucose 6-phosphatase (type I glycogen storage) as was formerly believed.
Databáze: OpenAIRE