The biochemical, clinical, and histological findings of phosphorylase deficiency in a 171/2monthold girl have been presented. According to present classifications her defect is compatible with Type VIII glycogen storage disease. Leucocyte phosphorylase assays in this case were not found to exemplify accurately the hepatic phosphorylase system.
CITATION STYLE
Ludwig, M., Wolfson, S., & Rennert, O. (1972). Glycogen storage disease, type viii. Archives of Disease in Childhood, 47(255), 830–833. https://doi.org/10.1136/adc.47.255.830
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