ITEM METADATA RECORD
Title: Multiple phenotypes in phosphoglucomutase 1 deficiency
Authors: Tegtmeyer, Laura C ×
Rust, Stephan
van Scherpenzeel, Monique
Ng, Bobby G
Losfeld, Marie-Estelle
Timal, Sharita
Raymond, Kimiyo
He, Ping
Ichikawa, Mie
Veltman, Joris
Huijben, Karin
Shin, Yoon S
Sharma, Vandana
Adamowicz, Maciej
Lammens, Martin
Reunert, Janine
Witten, Anika
Schrapers, Esther
Matthijs, Gert
Jaeken, Jaak
Rymen, Daisy
Stojkovic, Tanya
Laforêt, Pascal
Petit, François
Aumaître, Olivier
Czarnowska, Elzbieta
Piraud, Monique
Podskarbi, Teodor
Stanley, Charles A
Matalon, Reuben
Burda, Patricie
Seyyedi, Soraya
Debus, Volker
Socha, Piotr
Sykut-Cegielska, Jolanta
van Spronsen, Francjan
de Meirleir, Linda
Vajro, Pietro
DeClue, Terry
Ficicioglu, Can
Wada, Yoshinao
Wevers, Ron A
Vanderschaeghe, Dieter
Callewaert, Nico
Fingerhut, Ralph
van Schaftingen, Emile
Freeze, Hudson H
Morava, Eva
Lefeber, Dirk J
Marquardt, Thorsten #
Issue Date: Feb-2014
Series Title: New England Journal of Medicine vol:370 issue:6 pages:533-42
Article number: 10.1056/NEJMoa1206605
Abstract: Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest.
URI: 
ISSN: 0028-4793
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
Tegtmeyer 2014.pdfOA article Published 3567KbAdobe PDFView/Open

 


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science