Jaak Jaeken

Jaak Jaeken

UNVERIFIED PROFILE

Are you Jaak Jaeken?   Register this Author

Register author
Jaak Jaeken

Jaak Jaeken

Publications by authors named "Jaak Jaeken"

Are you Jaak Jaeken?   Register this Author

100Publications

2273Reads

40Profile Views

Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.

Eur J Hum Genet 2019 Nov 23;27(11):1757-1760. Epub 2019 Jun 23.

Department of Human Genetics, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0453-yDOI Listing
November 2019

CDG and immune response: From bedside to bench and back.

J Inherit Metab Dis 2019 May 16. Epub 2019 May 16.

Portuguese Association for CDG, Lisbon, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12126DOI Listing
May 2019

Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.

Electrophoresis 2018 12 2;39(24):3133-3141. Epub 2018 Aug 2.

CNRS, UMR 8576-UGSF-Unité de Glycobiologie Structurale et Fonctionnelle, Univ. Lille, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/elps.201800020DOI Listing
December 2018

Congenital disorders of glycosylation (CDG): Quo vadis?

Eur J Med Genet 2018 Nov 25;61(11):643-663. Epub 2017 Oct 25.

Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.10.012DOI Listing
November 2018

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.

Orphanet J Rare Dis 2018 11 28;13(1):215. Epub 2018 Nov 28.

Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2829-516, Caparica, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-018-0953-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263554PMC
November 2018

Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation.

Eur J Hum Genet 2018 08 23;26(8):1230-1233. Epub 2018 Apr 23.

Department of Human Genetics, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-017-0002-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057978PMC
August 2018

Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation.

Eur J Hum Genet 2018 05 30;26(5):618-621. Epub 2017 Nov 30.

Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, Leuven, B-3000, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-017-0044-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945621PMC
May 2018

Recognizable phenotypes in CDG.

J Inherit Metab Dis 2018 05 13;41(3):541-553. Epub 2018 Apr 13.

Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10545-018-0156-5
Publisher Site
http://dx.doi.org/10.1007/s10545-018-0156-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960425PMC
May 2018

CDG Therapies: From Bench to Bedside.

Int J Mol Sci 2018 Apr 27;19(5). Epub 2018 Apr 27.

Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2820-287 Lisboa, Portugal.

View Article

Download full-text PDF

Source
http://www.mdpi.com/1422-0067/19/5/1304
Publisher Site
http://dx.doi.org/10.3390/ijms19051304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983582PMC
April 2018

Renal involvement in PMM2-CDG, a mini-review.

Mol Genet Metab 2018 03 28;123(3):292-296. Epub 2017 Nov 28.

Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Department of Development and Regeneration, KU Leuven, Leuven, Belgium; Tulane University Medical School, Department of Pediatrics, New Orleans, LA, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.11.012DOI Listing
March 2018

Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG.

J Med Genet 2018 02 28;55(2):137-142. Epub 2017 Aug 28.

Department of Paediatrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2017-104586DOI Listing
February 2018

PMM2-CDG and sensorineural hearing loss.

J Inherit Metab Dis 2017 09 31;40(5):629-630. Epub 2017 Jul 31.

Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-017-0073-zDOI Listing
September 2017

Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation.

BMC Health Serv Res 2017 Sep 26;17(1):682. Epub 2017 Sep 26.

Department of Pediatrics, Center for Metabolic Disease, University Hospital Gasthuisberg, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12913-017-2625-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615629PMC
September 2017

What is new in CDG?

J Inherit Metab Dis 2017 07 8;40(4):569-586. Epub 2017 May 8.

Department of Human Genetics, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-017-0050-6DOI Listing
July 2017

Erratum to: What is new in CDG?

J Inherit Metab Dis 2017 07;40(4):621-625

Department of Human Genetics, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-017-0068-9DOI Listing
July 2017

PIGO deficiency: palmoplantar keratoderma and novel mutations.

Orphanet J Rare Dis 2017 05 25;12(1):101. Epub 2017 May 25.

Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-017-0654-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5445308PMC
May 2017

Early-Onset Epileptic Encephalopathy in infants with different forms of Congenital Disorders of Glycosylation (CDG).

Brain Dev 2017 04 4;39(4):366-367. Epub 2016 Dec 4.

Center for Metabolic Disease, Department of Pediatrics, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2016.11.008DOI Listing
April 2017

Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.

J Clin Endocrinol Metab 2017 Apr;102(4):1375-1386

Université Lille, Centre National de la Recherche Française, UMR 8576-Unité de Glycobiologie Structurale et Fonctionnelle-Unité de Glycobiologie Structurale et Fonctionnelle, F-59000 Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2016-3443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283449PMC
April 2017

Galactose Epimerase Deficiency: Expanding the Phenotype.

JIMD Rep 2017 1;37:19-25. Epub 2017 Mar 1.

Unidade de Doenças Metabólicas, Centro de Desenvolvimento da Criança, Hospital Pediátrico - Centro Hospitalar e Universitário de Coimbra, EPE, Avenida Afonso Romão, Coimbra, 3000-206, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2017_10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740041PMC
March 2017

Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.

Eur J Hum Genet 2017 02 9;25(2). Epub 2016 Nov 9.

Department of Human Genetics, Centre for Human Genetics, KULeuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2016.151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255951PMC
February 2017

PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure.

Acta Clin Belg 2016 Dec 24;71(6):435-437. Epub 2016 May 24.

a Division of Paediatric Endocrinology , University Hospital Brussels , Brussels , Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/17843286.2016.1142043DOI Listing
December 2016

Immunological aspects of congenital disorders of glycosylation (CDG): a review.

J Inherit Metab Dis 2016 11 8;39(6):765-780. Epub 2016 Jul 8.

Centro de Estudos de Doenças Crónicas, CEDOC, NOVA Medical School / Faculdade de Ciências Médicas, Universidade NOVA de Lisboa, Lisbon, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9954-9DOI Listing
November 2016

Clinical utility gene card for: Peters plus syndrome.

Eur J Hum Genet 2016 08 6;24(8). Epub 2016 Apr 6.

Centre for Human Genetics, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2016.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970696PMC
August 2016

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

J Pediatr 2016 08 17;175:130-136.e8. Epub 2016 May 17.

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2016.04.021DOI Listing
August 2016

Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.

Eur J Hum Genet 2016 07 18;24(7). Epub 2015 Nov 18.

Centre for Human Genetics, KULeuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2015.248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070899PMC
July 2016

Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).

JIMD Rep 2016 10;27:93-9. Epub 2015 Oct 10.

Department of Pediatrics, Center for Metabolic Disease, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2015_497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867844PMC
May 2016

Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.

Hum Mol Genet 2016 Apr 1;25(8):1489-500. Epub 2016 Feb 1.

Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, F-59000 Lille, France,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddw026DOI Listing
April 2016

Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.

J Inherit Metab Dis 2016 Jan 3;39(1):107-14. Epub 2015 Sep 3.

Department of Pediatrics, Clinical Sciences, Lund University, BMC D12, 221 84, Lund, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-015-9884-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822552PMC
January 2016

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

Eur J Hum Genet 2015 Dec 5;23(12). Epub 2015 Aug 5.

Department of Human Genetics, Centre for Human Genetics, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2015.177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795212PMC
December 2015

Key features and clinical variability of COG6-CDG.

Mol Genet Metab 2015 Nov 29;116(3):163-70. Epub 2015 Jul 29.

Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Institute of Medical Genetics and Human Genetics, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192153003
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2015.07.003DOI Listing
November 2015

Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.

Eur J Hum Genet 2015 Oct 4;23(10). Epub 2015 Feb 4.

Centre for Human Genetics, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2015.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592101PMC
October 2015

N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency.

J Proteome Res 2015 Oct 24;14(10):4402-12. Epub 2015 Sep 24.

NIBRT GlycoScience Group, National Institute for Bioprocessing Research and Training , Fosters Avenue, Mount Merrion, Blackrock, Dublin 4, Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1021/acs.jproteome.5b00709DOI Listing
October 2015

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Orphanet J Rare Dis 2015 Oct 26;10:138. Epub 2015 Oct 26.

Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu, 2. 08950 Esplugues, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-015-0358-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623922PMC
October 2015

Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.

Glycobiology 2015 Jun 21;25(6):669-82. Epub 2015 Jan 21.

Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/glycob/cwv009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4410832PMC
June 2015

Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.

Eur J Hum Genet 2015 Feb 23;23(2). Epub 2014 Jul 23.

Centre for Human Genetics, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297893PMC
February 2015

Clinical utility gene card for: Phosphomannose isomerase deficiency.

Eur J Hum Genet 2014 Sep 26;22(9). Epub 2014 Feb 26.

Centre for Human Genetics, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135420PMC
September 2014

Clinical utility gene card for: Phosphomannomutase 2 deficiency.

Eur J Hum Genet 2014 Aug 15;22(8). Epub 2014 Jan 15.

Centre for Human Genetics, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg2013298
Publisher Site
http://dx.doi.org/10.1038/ejhg.2013.298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350603PMC
August 2014

Congenital disorders of glycosylation with emphasis on cerebellar involvement.

Semin Neurol 2014 Jul 5;34(3):357-66. Epub 2014 Sep 5.

Department of Pediatrics, Center for Metabolic Disease, KULeuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0034-1387197DOI Listing
July 2014

Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.

Clin Chim Acta 2014 Apr 6;431:15-8. Epub 2014 Feb 6.

Karolinska Institutet, Department of Laboratory Medicine, Stockholm, Sweden; Karolinska University Laboratory, Clinical Chemistry, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2014.01.018DOI Listing
April 2014

ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.

Mol Genet Metab 2013 Sep-Oct;110(1-2):170-5. Epub 2013 Jun 7.

Developmental Medicine, Royal Children's Hospital, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.05.020DOI Listing
March 2014

Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.

Mol Genet Metab 2013 Nov 10;110(3):342-4. Epub 2013 Jul 10.

Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden; Karolinska University Laboratory, Stockholm, Sweden. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.07.002DOI Listing
November 2013

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

Orphanet J Rare Dis 2013 Oct 20;8:170. Epub 2013 Oct 20.

Centro Regional de Hemodonación Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Universidad de Murcia, Ronda de Garay S/N, 30003 Murcia, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016514PMC
October 2013

A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation.

J Proteome Res 2013 Jul 17;12(7):3471-9. Epub 2013 Jun 17.

Biochemistry Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health & Great Ormond Street Hospital, University College London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1021/pr400328gDOI Listing
July 2013

Confocal microscopy of corneal crystals in a patient with hereditary tyrosinemia type I, treated with NTBC.

Cornea 2013 Jan;32(1):91-4

Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/ICO.0b013e318243e474DOI Listing
January 2013

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect.

Genet Med 2013 Jan 16;15(1):55-63. Epub 2012 Aug 16.

Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2012.90DOI Listing
January 2013

Two novel deletions in hypotonia-cystinuria syndrome.

Mol Genet Metab 2012 Nov 26;107(3):614-6. Epub 2012 Jun 26.

Laboratory for Biochemical Neuroendocrinology, Center for Human Genetics, University of Leuven, KU Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2012.06.011DOI Listing
November 2012

MGAT2-CDG (CDG-IIa) and dysmorphism.

Authors:
Jaak Jaeken

Am J Med Genet A 2012 Nov 28;158A(11):2974-5; author reply 2976. Epub 2012 Sep 28.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35314DOI Listing
November 2012

Isolated neonatal seizures: adenylosuccinase deficiency is another cause!

Authors:
Jaak Jaeken

Pediatr Neurol 2012 Sep;47(3):228; author reply 228-9

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2012.05.020DOI Listing
September 2012

TMEM165 deficiency causes a congenital disorder of glycosylation.

Am J Hum Genet 2012 Jul 7;91(1):15-26. Epub 2012 Jun 7.

Centre National de la Recherche Scientifique UMR, Structural and Functional Glycobiology Unit, University of Lille, Institut Fédératif de Recherche, Villeneuve D'Ascq, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2012.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3397274PMC
July 2012

Distinct features of congenital disorder of glycosylation type IIx in Kuwait: a case report.

J Child Neurol 2012 Feb 29;27(2):222-4. Epub 2011 Sep 29.

Department of Pediatrics, Jahra Hospital, Kuwait.

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/0883073811416667
Publisher Site
http://dx.doi.org/10.1177/0883073811416667DOI Listing
February 2012

Identification of a novel PEX14 mutation in Zellweger syndrome.

BMJ Case Rep 2009 23;2009. Epub 2009 Jan 23.

K.U.Leuven, Moleculaire Celbiologie, Campust Gasthuisberg ON1, Herestraat 49 box 601, Leuven, 3000, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr.07.2008.0503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3027610PMC
November 2011

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

Authors:
Jaak Jaeken

J Inherit Metab Dis 2011 Aug 8;34(4):853-8. Epub 2011 Mar 8.

Universitair Ziekenhuis Gasthuisberg, Herestraat 49, 3000, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-011-9299-3DOI Listing
August 2011

PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients.

CNS Neurol Disord Drug Targets 2011 May;10(3):355-60

Laboratory for Biochemical Neuroendocrinology, Center for Human Genetics, University of Leuven, Belgium.

View Article

Download full-text PDF

Source
May 2011

FSH isoform pattern in classic galactosemia.

J Inherit Metab Dis 2011 Apr 3;34(2):387-90. Epub 2010 Sep 3.

Department of Pediatrics, Maastricht University Medical Center, Maastricht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-010-9180-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063565PMC
April 2011

Congenital disorders of glycosylation.

Authors:
Jaak Jaeken

Ann N Y Acad Sci 2010 Dec;1214:190-8

University Hospital Gasthuisberg, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1749-6632.2010.05840.xDOI Listing
December 2010

De Barsy syndrome and ATP6V0A2-CDG.

Eur J Hum Genet 2010 May 16;18(5):526; author reply 526. Epub 2009 Dec 16.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2009.218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987315PMC
May 2010

Fragmentation of negative ions from N-linked carbohydrates, part 4. Fragmentation of complex glycans lacking substitution on the 6-antenna.

J Mass Spectrom 2010 May;45(5):528-35

Glycobiology Institute, Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jms.1736DOI Listing
May 2010

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.

Orphanet J Rare Dis 2010 Apr 16;5. Epub 2010 Apr 16.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-5-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861021PMC
April 2010

A new capillary zone electrophoresis method for the screening of congenital disorders of glycosylation (CDG).

Clin Chim Acta 2010 Jan 27;411(1-2):64-6. Epub 2009 Oct 27.

Department of Medical Genetics, MUHC-Montreal Children's Hospital, Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2009.10.004DOI Listing
January 2010

A new mutation in COG7 extends the spectrum of COG subunit deficiencies.

Eur J Med Genet 2009 Sep-Oct;52(5):303-5. Epub 2009 Jul 3.

Department of Paediatrics, University Hospitals Leuven, Leuven BE-3000, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2009.06.006DOI Listing
November 2009

RFT1 deficiency in three novel CDG patients.

Hum Mutat 2009 Oct;30(10):1428-34

Laboratory for Molecular Diagnosis, Center for Human Genetics, University of Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869400PMC
October 2009

MGAT2 deficiency (CDG-IIa): the Life of J.

Biochim Biophys Acta 2009 Sep 10;1792(9):844-6. Epub 2009 Feb 10.

Department of Pediatrics, University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2009.02.001DOI Listing
September 2009

From glycosylation to glycosylation diseases.

Biochim Biophys Acta 2009 Sep;1792(9):823

Center for Metabolic Diseases, University Hospital Gasthuisberg, Herestraat, 49, BE-3000 Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2009.08.003DOI Listing
September 2009

CDG nomenclature: time for a change!

Biochim Biophys Acta 2009 Sep;1792(9):825-6

Center for Metabolic Disease, Katholieke Universiteit Leuven, BE-3000 Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2009.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917312PMC
September 2009

Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.

Glycobiology 2009 Aug 18;19(8):910-7. Epub 2009 May 18.

Laboratory for Molecular Diagnosis, Center for Human Genetics, University of Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/glycob/cwp067DOI Listing
August 2009

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.

Hum Mol Genet 2009 Feb 13;18(3):517-24. Epub 2008 Nov 13.

Department of Pediatrics, University Hospitals Leuven, Herestraat 49, BE-3000 Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddn379DOI Listing
February 2009

GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.

J Clin Endocrinol Metab 2008 Dec 23;93(12):4851-9. Epub 2008 Sep 23.

Center for Molecular and Vascular Biology, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2008-0883DOI Listing
December 2008