Search for rare liver diseases: the case of glycosylation defects mimicking Wilson Disease ->
| Autor: | Stuart Tanner, Pietro Vajro, Maciej Adamowicz, Dirk Lefeber, Piotr Socha |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: |
medicine.medical_specialty
Pathology Glycosylation rare disease Disease Abnormal glycosylation Diagnosis Differential chemistry.chemical_compound Rare Diseases Hepatolenticular Degeneration Metabolic Diseases children Internal medicine medicine Humans Disorders of movement Radboud Institute for Molecular Life Sciences [Radboudumc 3] chemistry.chemical_classification Hepatology business.industry Liver Diseases Gastroenterology Dilated cardiomyopathy medicine.disease chemistry Transferrin Immunology business Rhabdomyolysis Rare disease |
| Zdroj: | Clinics and Research in Hepatology and Gastroenterology, 38, 4, pp. 403-6 Clinics and Research in Hepatology and Gastroenterology, 38, 403-6 |
| ISSN: | 2210-7401 |
| Popis: | Item does not contain fulltext Pediatric hepatology appears to be a very specific field of paediatrics which deals mainly with rare diseases although clinical features can be commonly found - like increased activity of transaminases. Some of these rare diseases like Wilson disease are commonly looked for and recently Wilsonian like phenotypes have been described which additionally presented with abnormal glycosylation of the plasma protein transferrin. In a subgroup of those patients with specific additional clinical symptoms (cleft uvula, low blood sugar, rhabdomyolysis and dilated cardiomyopathy) phosphoglucomutase 1 deficiency was identified. We recommend screening for abnormal glycosylation of the plasma protein transferrin in children with unexplained liver injury. |
| Databáze: | OpenAIRE |
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