PubMed

RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation.

Jaeken J, Vleugels W, Régal L, Corchia C, Goemans N, Haeuptle MA, Foulquier F, Hennet T, Matthijs G, Dionisi-Vici C.

J Inherit Metab Dis. 2009 Oct 24. [Epub ahead of print]PMID: 19856127 [PubMed - as supplied by publisher]Related articles

A new Capillary Zone Electrophoresis method for the screening of Congenital Disorders of Glycosylation (CDG).

Parente F, Mew NA, Jaeken J, Gilfix BM.

Clin Chim Acta. 2010 Jan;411(1-2):64-6. Epub 2009 Oct 27.PMID: 19840782 [PubMed - in process]Related articles

CDG nomenclature: time for a change!

Jaeken J, Hennet T, Matthijs G, Freeze HH.

Biochim Biophys Acta. 2009 Sep;1792(9):825-6. No abstract available. PMID: 19765534 [PubMed - in process]Related articles

From glycosylation to glycosylation diseases.

Jaeken J, Matthijs G.

Biochim Biophys Acta. 2009 Sep;1792(9):823. No abstract available. PMID: 19765533 [PubMed - in process]Related articles

RFT1 deficiency in three novel CDG patients.

Vleugels W, Haeuptle MA, Ng BG, Michalski JC, Battini R, Dionisi-Vici C, Ludman MD, Jaeken J, Foulquier F, Freeze HH, Matthijs G, Hennet T.

Hum Mutat. 2009 Oct;30(10):1428-34.PMID: 19701946 [PubMed - in process]Related articles

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

Zeevaert R, Foulquier F, Cheillan D, Cloix I, Guffon N, Sturiale L, Garozzo D, Matthijs G, Jaeken J.

Eur J Med Genet. 2009 Sep-Oct;52(5):303-5. Epub 2009 Jul 3.PMID: 19577670 [PubMed - indexed for MEDLINE]Related articles

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

Vleugels W, Keldermans L, Jaeken J, Butters TD, Michalski JC, Matthijs G, Foulquier F.

Glycobiology. 2009 Aug;19(8):910-7. Epub 2009 May 18.PMID: 19451548 [PubMed - in process]Related articles

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

de Cock P, Jaeken J.

Biochim Biophys Acta. 2009 Sep;1792(9):844-6. Epub 2009 Feb 10. No abstract available. PMID: 19419693 [PubMed - in process]Related articles

Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx.

Calvo PL, Pagliardini S, Baldi M, Pucci A, Sturiale L, Garozzo D, Vinciguerra T, Barbera C, Jaeken J.

J Inherit Metab Dis. 2008 Dec 9. [Epub ahead of print]PMID: 19067230 [PubMed - as supplied by publisher]Related articles

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

Zeevaert R, Foulquier F, Dimitrov B, Reynders E, Van Damme-Lombaerts R, Simeonov E, Annaert W, Matthijs G, Jaeken J.

Hum Mol Genet. 2009 Feb 1;18(3):517-24. Epub 2008 Nov 13.PMID: 19008299 [PubMed - indexed for MEDLINE]Related articles

On the nomenclature of congenital disorders of glycosylation (CDG).

Jaeken J, Hennet T, Freeze HH, Matthijs G.

J Inherit Metab Dis. 2008 Dec;31(6):669-72. Epub 2008 Oct 24.PMID: 18949576 [PubMed - indexed for MEDLINE]Related articles

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

Freson K, Izzi B, Labarque V, Van Helvoirt M, Thys C, Wittevrongel C, Bex M, Bouillon R, Godefroid N, Proesmans W, de Zegher F, Jaeken J, Van Geet C.

J Clin Endocrinol Metab. 2008 Dec;93(12):4851-9. Epub 2008 Sep 23.PMID: 18812479 [PubMed - indexed for MEDLINE]Related articles

Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.

Freson K, Izzi B, Jaeken J, Van Helvoirt M, Thys C, Wittevrongel C, de Zegher F, Van Geet C.

J Clin Endocrinol Metab. 2008 Dec;93(12):4844-9. Epub 2008 Sep 16.PMID: 18796523 [PubMed - indexed for MEDLINE]Related articles

Multi-system disorder syndromes associated with cystinuria type I.

Martens K, Jaeken J, Matthijs G, Creemers JW.

Curr Mol Med. 2008 Sep;8(6):544-50. Review.PMID: 18781961 [PubMed - indexed for MEDLINE]Related articles

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.

Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB.

Neurology. 2008 Nov 11;71(20):1602-8. Epub 2008 Aug 20.PMID: 18716235 [PubMed - indexed for MEDLINE]Related articles

Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.

Sturiale L, Barone R, Palmigiano A, Ndosimao CN, Briones P, Adamowicz M, Jaeken J, Garozzo D.

Proteomics. 2008 Sep;8(18):3822-32.PMID: 18712764 [PubMed - indexed for MEDLINE]Related articles

The skeletal manifestations of the congenital disorders of glycosylation.

Coman D, Irving M, Kannu P, Jaeken J, Savarirayan R.

Clin Genet. 2008 Jun;73(6):507-15. Epub 2008 May 6. Review.PMID: 18462449 [PubMed - indexed for MEDLINE]Related articles

Hardikar syndrome: long term outcome of a rare genetic disorder.

Nydegger A, Van Dyck M, Fisher RA, Jaeken J, Hardikar W.

Am J Med Genet A. 2008 Oct 1;146A(19):2468-72.PMID: 18348269 [PubMed - indexed for MEDLINE]Related articles

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman.

Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nürnberg P, Mundlos S.

Am J Med Genet A. 2008 Apr 15;146A(8):965-76.PMID: 18348262 [PubMed - indexed for MEDLINE]Related articles

Identification of a novel PEX14 mutation in Zellweger syndrome.

Huybrechts SJ, Van Veldhoven PP, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D.

J Med Genet. 2008 Jun;45(6):376-83. Epub 2008 Feb 19.PMID: 18285423 [PubMed - indexed for MEDLINE]Related articles

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW.

J Med Genet. 2008 May;45(5):314-8. Epub 2008 Jan 30.PMID: 18234729 [PubMed - indexed for MEDLINE]Related articles

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia.

Coman D, Bostock D, Hunter M, Kannu P, Irving M, Mayne V, Fietz M, Jaeken J, Savarirayan R.

Am J Med Genet A. 2008 Feb 1;146(3):389-92. No abstract available. PMID: 18203160 [PubMed - indexed for MEDLINE]Related articles

NASH may be trash.

Cassiman D, Jaeken J.

Gut. 2008 Feb;57(2):141-4. No abstract available. PMID: 18192446 [PubMed - indexed for MEDLINE]Related articles

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation.

Zeevaert R, Foulquier F, Jaeken J, Matthijs G.

Mol Genet Metab. 2008 Jan;93(1):15-21. Epub 2007 Sep 29. Review.PMID: 17904886 [PubMed - indexed for MEDLINE]Related articles

A specific immunoprecipitation method for isolating isoforms of insulin-like growth factor binding protein-3 from serum.

Bons JA, Michielsen EC, de Boer D, Bouwman FG, Jaeken J, van Dieijen-Visser MP, Rubio-Gozalbo ME, Wodzig WK.

Clin Chim Acta. 2008 Jan;387(1-2):59-65. Epub 2007 Sep 8.PMID: 17904539 [PubMed - indexed for MEDLINE]Related articles

Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx.

Nsibu NC, Jaeken J, Carchon H, Mampunza M, Sturiale L, Garozzo D, Mashako MN, Tshibassu MP.

Eur J Paediatr Neurol. 2008 May;12(3):257-61. Epub 2007 Sep 19.PMID: 17884642 [PubMed - indexed for MEDLINE]Related articles

A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: early fetal loss with hydrops fetalis, and infant death with hypoproteinemia.

McKenzie FA, Fietz M, Fletcher J, Smith RL, Wright IM, Jaeken J.

Am J Med Genet A. 2007 Sep 1;143A(17):2029-34.PMID: 17663480 [PubMed - indexed for MEDLINE]Related articles

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.

Martens K, Heulens I, Meulemans S, Zaffanello M, Tilstra D, Hes FJ, Rooman R, François I, de Zegher F, Jaeken J, Matthijs G, Creemers JW.

Eur J Hum Genet. 2007 Oct;15(10):1029-33. Epub 2007 Jun 20.PMID: 17579669 [PubMed - indexed for MEDLINE]Related articlesFree article

Congenital disorders of glycosylation: a rapidly expanding disease family.

Jaeken J, Matthijs G.

Annu Rev Genomics Hum Genet. 2007;8:261-78. Review.PMID: 17506657 [PubMed - indexed for MEDLINE]Related articles

Bilateral renal cell carcinoma development in long-term Fabry disease.

Cassiman D, Claes K, Lerut E, Oyen R, Joniau S, Van Damme B, Jaeken J.

J Inherit Metab Dis. 2007 Oct;30(5):830-1. Epub 2007 May 12. No abstract available. PMID: 17505913 [PubMed - indexed for MEDLINE]Related articles

Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.

Coman D, McGill J, MacDonald R, Morris D, Klingberg S, Jaeken J, Appleton D.

J Clin Neurosci. 2007 Jul;14(7):668-72. Epub 2007 Apr 23.PMID: 17451957 [PubMed - indexed for MEDLINE]Related articles

Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.

Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E.

Am J Hum Genet. 2007 May;80(5):931-7. Epub 2007 Mar 30.PMID: 17436247 [PubMed - indexed for MEDLINE]Related articlesFree article

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).

Barone R, Sturiale L, Fiumara A, Uziel G, Garozzo D, Jaeken J.

J Inherit Metab Dis. 2007 Feb;30(1):107. Epub 2006 Dec 20.PMID: 17186415 [PubMed - indexed for MEDLINE]Related articles

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

Meulemans A, Seneca S, Smet J, De Paepe B, Lissens W, Van Coster R, Debeer A, De Meirleir L, Jaeken J.

Eur J Paediatr Neurol. 2007 Jan;11(1):17-20. Epub 2006 Dec 11.PMID: 17161635 [PubMed - indexed for MEDLINE]Related articles

Effect of glycosylation on the protein pattern in 2-D-gel electrophoresis.

Kleinert P, Kuster T, Arnold D, Jaeken J, Heizmann CW, Troxler H.

Proteomics. 2007 Jan;7(1):15-22.PMID: 17152094 [PubMed - indexed for MEDLINE]Related articles

PREPL: a putative novel oligopeptidase propelled into the limelight.

Martens K, Derua R, Meulemans S, Waelkens E, Jaeken J, Matthijs G, Creemers JW.

Biol Chem. 2006 Jul;387(7):879-83. Review.PMID: 16913837 [PubMed - indexed for MEDLINE]Related articles

Normal pregnancy outcome in L-2-hydroxyglutaric aciduria.

Jonckheere A, Carton D, Jaeken J, Gerlo E.

J Inherit Metab Dis. 2006 Aug;29(4):588. Epub 2006 Jun 26.PMID: 16802109 [PubMed - indexed for MEDLINE]Related articles

Use of serum on Guthrie cards in screening for congenital disorders of glycosylation.

Carchon HA, Nsibu Ndosimao C, Van Aerschot S, Jaeken J.

Clin Chem. 2006 Apr;52(4):774-5. No abstract available. PMID: 16595835 [PubMed - indexed for MEDLINE]Related articlesFree article

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

Foulquier F, Vasile E, Schollen E, Callewaert N, Raemaekers T, Quelhas D, Jaeken J, Mills P, Winchester B, Krieger M, Annaert W, Matthijs G.

Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3764-9. Epub 2006 Feb 28.PMID: 16537452 [PubMed - indexed for MEDLINE]Related articlesFree article

Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature.

Di Rocco M, Hennet T, Grubenmann CE, Pagliardini S, Allegri AE, Frank CG, Aebi M, Vignola S, Jaeken J.

J Inherit Metab Dis. 2005;28(6):1162-4.PMID: 16435218 [PubMed - indexed for MEDLINE]Related articles

Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.

Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G.

Am J Hum Genet. 2006 Jan;78(1):38-51. Epub 2005 Nov 23.PMID: 16385448 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.

Spaapen LJ, Bakker JA, van der Meer SB, Sijstermans HJ, Steet RA, Wevers RA, Jaeken J.

J Inherit Metab Dis. 2005;28(5):707-14.PMID: 16151902 [PubMed - indexed for MEDLINE]Related articles

Benzoate treatment and the glycine index in nonketotic hyperglycinaemia.

Van Hove JL, Vande Kerckhove K, Hennermann JB, Mahieu V, Declercq P, Mertens S, De Becker M, Kishnani PS, Jaeken J.

J Inherit Metab Dis. 2005;28(5):651-63.PMID: 16151895 [PubMed - indexed for MEDLINE]Related articles

Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development.

Cromphout K, Keldermans L, Snellinx A, Collet JF, Grünewald S, De Geest N, Sciot R, Vanschaftingen E, Jaeken J, Matthijs G, Hartmann D.

Eur J Neurosci. 2005 Aug;22(4):991-6.PMID: 16115222 [PubMed - indexed for MEDLINE]Related articles

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

Sturiale L, Barone R, Fiumara A, Perez M, Zaffanello M, Sorge G, Pavone L, Tortorelli S, O'Brien JF, Jaeken J, Garozzo D.

Glycobiology. 2005 Dec;15(12):1268-76. Epub 2005 Jul 21.PMID: 16037488 [PubMed - indexed for MEDLINE]Related articlesFree article

Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome.

Van Hove JL, Jaeken J, Proesmans M, Boeck KD, Minner K, Matthijs G, Verbeken E, Demunter A, Boogaerts M.

Am J Med Genet A. 2005 Jan 15;132A(2):152-8.PMID: 15558713 [PubMed - indexed for MEDLINE]Related articles

Congenital disorders of glycosylation: a booming chapter of pediatrics.

Jaeken J, Carchon H.

Curr Opin Pediatr. 2004 Aug;16(4):434-9. Review.PMID: 15273506 [PubMed - indexed for MEDLINE]Related articles

Congenital disorders of glycosylation (CDG): update and new developments.

Jaeken J.

J Inherit Metab Dis. 2004;27(3):423-6. Review.PMID: 15272470 [PubMed - indexed for MEDLINE]Related articles

CDG IIx with unusual phenotype.

Cheillan D, Cognat S, Dorche C, Jaeken J, Vianey-Saban C, Guffon N.

J Inherit Metab Dis. 2004;27(1):103-4.PMID: 15065572 [PubMed - indexed for MEDLINE]Related articles

Mass spectrometric analysis of human transferrin in different body fluids.

Kleinert P, Kuster T, Durka S, Ballhausen D, Bosshard NU, Steinmann B, Hänseler E, Jaeken J, Heizmann CW, Troxler H.

Clin Chem Lab Med. 2003 Dec;41(12):1580-8.PMID: 14708882 [PubMed - indexed for MEDLINE]Related articles