Publication year
2014Source
Clinics and Research in Hepatology and Gastroenterology, 38, 4, (2014), pp. 403-406ISSN
Publication type
Article / Letter to editor

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Organization
Neurology
Laboratory Medicine
Journal title
Clinics and Research in Hepatology and Gastroenterology
Volume
vol. 38
Issue
iss. 4
Page start
p. 403
Page end
p. 406
Subject
Radboudumc 3: Disorders of movement RIMLS: Radboud Institute for Molecular Life SciencesAbstract
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.
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- Faculty of Medical Sciences [80017]
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