Publications


Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.
Eur J Hum Genet 2014 Oct 19;22(10):1172-9. Epub 2014 Feb 19.
Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.



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.


B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.
J Pediatr 2011 Dec 13;159(6):1041-3.e2. Epub 2011 Sep 13.
Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).
Mol Genet Metab 2010 May 4;100(1):42-5. Epub 2010 Jan 4.
Department of Pediatrics and Adolescent Medicine, Laboratory for Inherited Metabolic Disorders, Medical University of Vienna, Austria.

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.
Mol Genet Metab 2009 Apr 1;96(4):273-5. Epub 2009 Feb 1.
Department of Pediatrics, Division of Biochemical Diseases, British Columbia Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver, BC, Canada V6H 3V4.

Heparin cofactor II-thrombin complex: a biomarker of MPS disease.
Mol Genet Metab 2008 Aug 3;94(4):456-61. Epub 2008 Jun 3.
Department of Medical Genetics, University of British Columbia, 4500 Oak Street, Room C234, Vancouver, BC, Canada V6H3N1.

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.
Eur J Pediatr 2008 Mar 23;167(3):267-77. Epub 2007 Nov 23.
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, Manchester M27 4HA, UK.


OF