Search for rare liver diseases: The case of glycosylation defects mimicking Wilson Disease ->

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Title:	Search for rare liver diseases: The case of glycosylation defects mimicking Wilson Disease ->
Author(s):	Socha, P.; Vajro, P.; Lefeber, D.J. ; Adamowicz, M.; Tanner, S.
Publication year:	2014
Source:	Clinics and Research in Hepatology and Gastroenterology, vol. 38, iss. 4, (2014), pp. 403-406
ISSN:	2210-7401
DOI:	https://doi.org/10.1016/j.clinre.2014.04.012
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/136777
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Subject:	Radboudumc 3: Disorders of movement RIMLS: Radboud Institute for Molecular Life Sciences
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
Abstract:	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.