@article{26749a6a80f44f9993dbfde461b6f5dc,
title = "Hepatic glycogenosis due to phosphorylase deficiency. Limitations of enzyme studies on liver biopsy specimens",
abstract = "Two boys (maternal cousins) with liver glycogen storage disease, type VI, were studied. In one the liver phosphorylase activity was low; in the other it was normal. However, leukocyte phosphorylase activity was low in the patient in whom liver phosphorylase activity was normal. Through the study of leukocyte enzymes we found that this patient has the sex-linked type of glycogen storage disease characterized by a low phosphorylase kinase activity. We conclude that in such cases the study of leukocyte enzymes provides more reliable results than that of liver enzymes.",
author = "Richard Wagner and Frans Huijing and Edith Porter",
note = "Funding Information: From the Department of Pediatrics, Tufts University School of Medicine, and the New England Medical Center Hospitals, Boston, Massachusetts 02111, and the Department of Biochemistry, University of Miami School of Medicine, Miami, Florida 33152. This study was supported by an Institutional Grant (2M-23K) of the American Cancer Society and Grant AM 13359 of the National Institute of Arthritis and Metabolic Diseases. Requests for reprints should be addressed to Dr. Richard Wagner, New England Medical Center Hospitals, 171 Harrison Avenue, Boston, Massachusetts 02111. Manuscript received June 15, 1970.",
year = "1971",
month = nov,
doi = "10.1016/0002-9343(71)90295-6",
language = "English (US)",
volume = "51",
pages = "685--691",
journal = "American Journal of Medicine",
issn = "0002-9343",
publisher = "Elsevier Inc.",
number = "5",
}