| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8813148 | Paediatrics and Child Health | 2017 | 7 Pages |
Abstract
This review highlights features in the history and presentation which should raise suspicion for an IMD, and the specialist metabolic investigations to consider when evaluating the child with liver disease. The review also discusses the clinical course and management of specific IMDs including glycogen storage disorders, congenital disorders of glycosylation, cholesterol ester storage disease, galactosaemia, neonatal haemochromatosis, hereditary tyrosinemia, fatty acid oxidations disorders, urea cycle defects, Niemann Pick C, Wilson disease, citrin deficiency and disorders of bile acid synthesis. The role of liver transplantation is discussed briefly.
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Authors
Laura Guilder, Shpresa Pula, Germaine Pierre,