Publications by authors named "Maciej Adamowicz"

18Publications

Search for rare liver diseases: the case of glycosylation defects mimicking Wilson Disease.

Clin Res Hepatol Gastroenterol 2014 Sep 25;38(4):403-6. Epub 2014 Jun 25.

University of Sheffield, UK, Academic Unit of Child Health, Sheffield Children's Hospital, Western Bank, Sheffield, UK.

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http://dx.doi.org/10.1016/j.clinre.2014.04.012DOI Listing
September 2014

Perinatal and early infantile symptoms in congenital disorders of glycosylation.

Am J Med Genet A 2013 Mar 7;161A(3):578-84. Epub 2013 Feb 7.

Hayward Genetics Center, Tulane University Medical Center, New Orleans, Louisiana, USA.

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http://dx.doi.org/10.1002/ajmg.a.35702DOI Listing
March 2013

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Pediatrics 2012 Oct 10;130(4):e1034-9. Epub 2012 Sep 10.

Department of Pediatrics at the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1542/peds.2011-2711DOI Listing
October 2012

Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.

Clin Chem 2011 Apr 27;57(4):593-602. Epub 2011 Jan 27.

Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2010.153635DOI Listing
April 2011

CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.

J Child Neurol 2009 Jan;24(1):13-8

Child Neurology Department, Medical University of Silesia, Katowice, Poland.

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http://dx.doi.org/10.1177/0883073808321041DOI Listing
January 2009

Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.

Mol Genet Metab 2008 Aug 20;94(4):481-4. Epub 2008 Jun 20.

Department of Pediatrics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2008.05.005DOI Listing
August 2008

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

Mol Genet Metab 2007 Apr 16;90(4):408-13. Epub 2007 Feb 16.

Center for Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ymgme.2007.01.003DOI Listing
April 2007

Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.

Glycobiology 2005 Dec 21;15(12):1312-9. Epub 2005 Jul 21.

Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/glycob/cwj017DOI Listing
December 2005