Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver
| Autor: | M.Ashraf Ali, Amir F. Kagalwalla, Y A Kagalwalla, Waldemer Gorka, Sulaiman Al Ajaji |
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| Rok vydání: | 1995 |
| Předmět: |
Liver Cirrhosis
medicine.medical_specialty Cirrhosis Phosphorylase Kinase Phosphorylase B kinase activity Consanguinity Hypoglycemia Elevated serum Culture Techniques Internal medicine medicine Humans Glycogen storage disease Phosphorylase b Phosphorylase B Kinase Deficiency Phosphorylase kinase business.industry Glycogen Storage Disease medicine.disease Liver Glycogen Endocrinology Liver Child Preschool Pediatrics Perinatology and Child Health Female business |
| Zdroj: | The Journal of Pediatrics. 127:602-605 |
| ISSN: | 0022-3476 |
| Popis: | We describe an Arab girl with complete absence of phosphorylase b kinase activity in the liver, symptomatic hypoglycemia, and persistently elevated serum aminotransferase values whose symptoms did not lessen with age; sequential liver biopsies showed progression to cirrhosis. Cirrhosis could not be ascribed to any other known cause. We conclude that type IX glycogenosis is not always associated with a benign outcome. |
| Databáze: | OpenAIRE |
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