Publications by authors named "Jaak Jaeken"

100Publications

Congenital disorders of glycosylation: Still "hot" in 2020.

Biochim Biophys Acta Gen Subj 2020 Sep 28;1865(1):129751. Epub 2020 Sep 28.

Department of Paediatrics and Centre for Metabolic Diseases, KU Leuven and University Hospital Leuven, Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2020.129751DOI Listing
September 2020

Platelets and Defective N-Glycosylation.

Int J Mol Sci 2020 Aug 6;21(16). Epub 2020 Aug 6.

Walther-Straub-Institute for Pharmacology and Toxicology, Ludwig Maximilian University, 80336 Munich, Germany.

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http://dx.doi.org/10.3390/ijms21165630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460655PMC
August 2020

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.

J Clin Med 2020 Jul 3;9(7). Epub 2020 Jul 3.

CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, 2825-149 Lisbon, Portugal.

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http://dx.doi.org/10.3390/jcm9072092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408855PMC
July 2020

SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card.

Eur J Hum Genet 2020 Sep 18;28(9):1297-1300. Epub 2020 May 18.

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

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http://dx.doi.org/10.1038/s41431-020-0647-3DOI Listing
September 2020

Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders.

J Inherit Metab Dis 2020 Jul 17;43(4):701-711. Epub 2020 Jan 17.

Department of Pediatrics, Subdivision Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7383723PMC
July 2020

Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years.

GMS Ophthalmol Cases 2019 20;9:Doc37. Epub 2019 Nov 20.

Department of General Internal Medicine and Center for Metabolic Diseases, University Hospitals Leuven, Belgium.

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http://dx.doi.org/10.3205/oc000126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6883380PMC
November 2019

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

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

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

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http://dx.doi.org/10.1038/s41431-019-0453-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871091PMC
November 2019

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

J Inherit Metab Dis 2020 01 25;43(1):90-124. Epub 2019 Jun 25.

Portuguese Association for CDG, Lisbon, Portugal.

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http://dx.doi.org/10.1002/jimd.12126DOI Listing
January 2020

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.

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

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.

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

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

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

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

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

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

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

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.

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

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.

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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.

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

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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.

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

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

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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.

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

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

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

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.

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

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.

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

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

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

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

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

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.

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

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.

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

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.

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

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.

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

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:

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

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.

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

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

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

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.

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

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.

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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.

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

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

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

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.

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

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:

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

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.

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

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.

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

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.

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

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.

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

Isolated neonatal seizures: adenylosuccinase deficiency is another cause!

Authors:
Jaak Jaeken

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

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

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.

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

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

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.

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

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.

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

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.

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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.

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http://dx.doi.org/10.2174/187152711794653760DOI Listing
May 2011

Congenital disorders of glycosylation.

Authors:
Jaak Jaeken

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

University Hospital Gasthuisberg, Leuven, Belgium.

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

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.

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