• Key Research Contacts
• Newsletter Articles
• 2008 CDG Publications  [PubMed listing]
• 2007 CDG Publications  [PubMed listing]
• 2006 CDG Publications  [PubMed listing]
• 2005 CDG Publications  [PubMed listing]
• 2004 CDG Publications  [PubMed listing]
• 2003 CDG Publications  [PubMed listing]
• OMIM, Online Mendelian Inheritance in Man Database CDG Listing
• Search PubMed for CDG Publications
• Search JBC Journal of Biological Chemistry for CDG Publications
• Search Glycobiology Journal for CDG Publications

Key Research Contacts

Donna Krasnewich, MD, Ph.D.
Deputy Clinical Director, NHGRI
NIH/NHGRI/MGB
Buliding 10 10C101
10 Center Drive, MSC-1852
Bethesda MD 20892-1852
Phone: 301-402-8255
Fax: 301-496-7157
Email: dkras@mail.nih.gov

Hudson Freeze, Ph.D.
Professor of Glycobiology, Director,
Glycobiology and Carbohydrate
Chemistry Program
The Burnham Institute
10901 N. Torrey Pines Rd.
La Jolla, CA 92037
Phone: 858-646-3142
Email: hudson@burnham.org

EUROGLYCAN - European Network for the systematic study of CDG and related diseases.
Contributing Laboratories; Belgium, Spain, Switzerland, Germany, The Netherlands, United Kingdom, Italy, Greece, Poland, Portugal and Hungary.
Website: http://www.euroglycanet.org
Email: info@euroglycanet.org

Department Human Genetics/ Center for Metabolic Diseases
KU Leuven
Katholieke Universiteit Leuven
Herestraat 49, 3000 Leuven BELGIUM
Contact : Prof. G. Matthijs - Tel. +32-16-346070 - Fax +32-16-346060
Prof. J. Jaeken- Tel. +32-16-343840 - Fax +32-16-343842
Email: jaak.jaeken@uz.kuleuven.ac.be

Pedriatic Medical Resources
Flemming Skovby, MD PhD
Professor of Pediatrics
Chairman, Department of Clinical Genetics
Rigshospitalet 4062
Blegdamsvej 9
DK-2100 Copenhagen
Denmark
Email: fskovby@rh.dk

Dr. Thorsten Marquardt
Univ. of Münster Dept. of Pediatrics
Albert-Schweitzer-Strasse 33
48149 Münster
Germany
Email: marquat@uni-muenster.de

Diagnostic Resources - Adult Medical Resources
Helena Stibler, MD PhD
Department of Neurology
Karolinska Hospital
SE-171 76 Stockholm
Sweden

Gösta Blennow, MD PhD
Pediatric and Youth Medicine Clinics
University Hospital
SE-221 85 Lund
Sweden
Email: gosta.blennow@barn.lund.itskane.se

Pediatric Medical Resources
Petter Strømme, MD PhD
Pediatric Clinic
Rikshospitalet
NO-0027 Oslo
Norway
Email: petter.stromme@rh.uio.no

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Newsletter Articles

The newsletter articles posted 09/04 was information to be presented at the Summer 2004 Family Conference.

• Biochemical Studies of Growth and Puberty in Congenital Disorders of Glycosylation, Bradley S. Miller, M.D., PhD, Division of Pediatric Endocrinology, University of Minnesota.   Posted 09/04

• CDG Prenatal Diagnosis,   Fernando Scaglia, M.D., Dept. of Molecular & Human Genetics, Baylor College of Medicine.   Posted 09/04

• CDG Summary of Features and Management,   Donna Krasnewich M.D., Ph.D., National Institutes of Health, Susan Sparks M.D., Ph.D., National Institutes of Health.."  Posted 09/04

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2008 CDG Publications

• The skeletal manifestations of the congenital disorders of glycosylation.  Coman D, Irving M, Kannu P, Jaeken J, Savarirayan R.   Clin Genet. 2008 May 6. [Epub ahead of print]
• Hepatomegaly and early cytolysis as presenting symptoms in CDG syndrome type Ia]  Ben Hariz M, Ben Mrad S, Halioui S, Rzgui L, Miladi N, Tebib N, Seta N, Maherzi A.  Tunis Med. 2008 Feb;86(2):204-7. French. No abstract available.
• Detection of hypo-N-glycosylation using mass spectrometry of transferrin.  O'Brien JF, Lacey JM, Bergen HR 3rd.   Curr Protoc Hum Genet. 2007 Jul;Chapter 17:Unit 17.4.
• Congenital disorders of glycosylation-a challenging group of IEMs.  Vodopiutz J, Bodamer OA.  J Inherit Metab Dis. 2008 Apr 4. [Epub ahead of print]
• 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;146(8):965-76.
• Genetic variants of transferrin in cystic fibrosis. Jan;  Marklová E, Albahri Z, Vaníc(ek H, De(dek P, Vališ M, Kopác(ová M, Vávrová V.  J Inherit Metab Dis. 2008 Feb 22. [Epub ahead of print]
• Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib.  Liem YS, Bode L, Freeze HH, Leebeek FW, Zandbergen AA, Paul Wilson J; Medscape LLC.   Nat Clin Pract Gastroenterol Hepatol. 2008 Apr;5(4):220-4. Epub 2008 Feb 19.
• Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.   Arnoux JB, Boddaert N, Valayannopoulos V, Romano S, Bahi-Buisson N, Desguerre I, de Keyzer Y, Munnich A, Brunelle F, Seta N, Dautzenberg MD, de Lonlay P.  Mol Genet Metab. 2008 Apr;93(4):444-9. Epub 2008 Feb 21.
• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.  Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S.   Nat Genet. 2008 Jan;40(1):32-4. Epub 2007 Dec 23.
• Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease.  Pérez-Cerdá C, Quelhas D, Vega AI, Ecay J, Vilarinho L, Ugarte M.   Clin Chem. 2008 Jan;54(1):93-100. Epub 2007 Nov 16.

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2007 CDG Publications

• MALDI-QTOFMS/MS identification of glycoforms from the urine of a CDG patient.  Vakhrushev SY, Snel MF, Langridge J, Peter-Katalinic' J.   Carbohydr Res. 2007 Nov 22. [Epub ahead of print]
• Congenital disorders of glycosylation type Ia as a cause of mirror syndrome.  Wurm D, Löffler G, Lindinger A, Gortner L.   J Perinatol. 2007 Dec;27(12):802-4.
• Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.  Babovic-Vuksanovic D, O'Brien JF.   Mol Diagn Ther. 2007;11(5):303-11. Review.
• Congenital disorders of glycosylation: rapidly enlarging group of (neuro)metabolic disorders.  Grünewald S.   Early Hum Dev. 2007 Dec;83(12):825-30. Epub 2007 Oct 24.
• Development of liver disease despite mannose treatment in two patients with CDG-Ib.  Mention K, Lacaille F, Valayannopoulos V, Romano S, Kuster A, Cretz M, Zaidan H, Galmiche L, Jaubert F, de Keyzer Y, Seta N, de Lonlay P.   Mol Genet Metab. 2008 Jan;93(1):40-3. Epub 2007 Oct 22.
• Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs).  Biffi S, Tamaro G, Bortot B, Zamberlan S, Severini GM, Carrozzi M.   Clin Biochem. 2007 Dec;40(18):1431-4. Epub 2007 Sep 6.
• Unexpected basis for impaired Glc3Man9GlcNAc2-P-P-dolichol biosynthesis by elevated expression of GlcNAc-1-P transferase.  Gao N, Shang J, Lehrman MA.   Glycobiology. 2008 Jan;18(1):125-34. Epub 2007 Oct 3.
• 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.
• 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.
• 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.
• Mass spectrometry in the detection and diagnosis of congenital disorders of glycosylation.  Wada Y.  Eur J Mass Spectrom (Chichester, Eng). 2007;13(1):101-3.
• N-glycosylation site occupancy in serum glycoproteins using multiple reaction monitoring liquid chromatography-mass spectrometry.  Hülsmeier AJ, Paesold-Burda P, Hennet T.   Mol Cell Proteomics. 2007 Dec;6(12):2132-8. Epub 2007 Sep 6.
• Screening and diagnosis of congenital disorders of glycosylation.  Marklová E, Albahri Z.   Clin Chim Acta. 2007 Oct;385(1-2):6-20. Epub 2007 Jul 13. Review.
• Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.  Vermeer S, Kremer HP, Leijten QH, Scheffer H, Matthijs G, Wevers RA, Knoers NA, Morava E, Lefeber DJ.   J Neurol. 2007 Oct;254(10):1356-8. Epub 2007 Aug 15.
• 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;143(17):2029-34.
• Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia).  Krasnewich D, O'Brien K, Sparks S.  Am J Med Genet C Semin Med Genet. 2007 Aug 15;145(3):302-6. Review.
• The liver in congenital disorders of glycosylation: ultrastructural features.  Iancu TC, Mahajnah M, Manov I, Cherurg S, Knopf C, Mandel H.   Ultrastruct Pathol. 2007 May-Jun;31(3):189-97.
• Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond.  Freeze HH.  Curr Mol Med. 2007 Jun;7(4):389-96. Review.
• CDG-Id in two siblings with partially different phenotypes.  Kranz C, Sun L, Eklund EA, Krasnewich D, Casey JR, Freeze HH.   Am J Med Genet A. 2007 Jul 1;143(13):1414-20.
• Characterization of transferrin glycoforms in human serum by CE-UV and CE-ESI-MS.  Sanz-Nebot V, Balaguer E, Benavente F, Neusüss C, Barbosa J.   Electrophoresis. 2007 Jun;28(12):1949-57.
• A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis.  Faid V, Chirat F, Seta N, Foulquier F, Morelle W.   Proteomics. 2007 Jun;7(11):1800-13.
• Congenital disorders of glycosylation: a rapidly expanding disease family.  Jaeken J, Matthijs G.   Annu Rev Genomics Hum Genet. 2007;8:261-78. Review.
• Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.  Kranz C, Basinger AA, Güçsavas,-Calikog(lu M, Sun L, Powell CM, Henderson FW, Aylsworth AS, Freeze HH.   Am J Med Genet A. 2007 Jun 15;143(12):1371-8.
• Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.  Adamowicz M, Ploski R, Rokicki D, Morava E, Gizewska M, Mierzewska H, Pollak A, Lefeber DJ, Wevers RA, Pronicka E.  Inherit Metab Dis. 2007 Jun;30(3):407. Epub 2007 Apr 24.
• 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.
• Molecular and clinical characterization of a Moroccan Cog7 deficient patient.  Ng BG, Kranz C, Hagebeuk EE, Duran M, Abeling NG, Wuyts B, Ungar D, Lupashin V, Hartdorff CM, Poll-The BT, Freeze HH.   Mol Genet Metab. 2007 Jun;91(2):201-4. Epub 2007 Mar 28.
• Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis.  Quintana E, Gala S, García-Cazorla A, Montero R, Muñoz-Almagro C, Vilaseca MA, Briones P, Artuch R.  J Inherit Metab Dis. 2007 Apr;30(2):267. Epub 2007 Feb 15.
• COG8 deficiency causes new congenital disorder of glycosylation type IIh.  Kranz C, Ng BG, Sun L, Sharma V, Eklund EA, Miura Y, Ungar D, Lupashin V, Winkel RD, Cipollo JF, Costello CE, Loh E, Hong W, Freeze HH.  Hum Mol Genet. 2007 Apr 1;16(7):731-41. Epub 2007 Mar 1.
• Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.  Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sánchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G.   Mol Genet Metab. 2007 Apr;90(4):408-13. Epub 2007 Feb 16.
• A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.  Foulquier F, Ungar D, Reynders E, Zeevaert R, Mills P, García-Silva MT, Briones P, Winchester B, Morelle W, Krieger M, Annaert W, Matthijs G.  Hum Mol Genet. 2007 Apr 1;16(7):717-30. Epub 2007 Jan 12.
• 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.
• Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects.  Wopereis S, Grünewald S, Huijben KM, Morava E, Mollicone R, van Engelen BG, Lefeber DJ, Wevers RA.   Clin Chem. 2007 Feb;53(2):180-7. Epub 2006 Dec 14.
• Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.  uelhas D, Quental R, Vilarinho L, Amorim A, Azevedo L.   Ann Hum Genet. 2007 May;71(Pt 3):348-53. Epub 2006 Dec 12.
• Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.  van de Kamp JM, Lefeber DJ, Ruijter GJ, Steggerda SJ, den Hollander NS, Willems SM, Matthijs G, Poorthuis BJ, Wevers RA.  Ann Hum Genet. 2007 May;71(Pt 3):348-53. Epub 2006 Dec 12.
• Effect of glycosylation on the protein pattern in 2-D-gel electrophoresis.  Kleinert P, Kuster T, Arnold D, Jaeken J, Heizmann CW, Troxler H.  J Med Genet. 2007 Apr;44(4):277-80. Epub 2006 Dec 8.
• Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement.  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.

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2006 CDG Publications

• Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of o-glycosylation associated with augmented processing of fibroblast growth factor 23.  Frishberg Y, Ito N, Rinat C, Yamazaki Y, Feinstein S, Urakawa I, Navon-Elkan P, Becker-Cohen R, Yamashita T, Araya K, Igarashi T, Fujita T, Fukumoto S.  J Bone Miner Res. 2007 Feb;22(2):235-42.
• A child with an underrecognized form of developmental delay: a congenital disorder of glycosylation.  Mahant S, Feigenbaum A.  CMAJ. 2006 Nov 21;175(11):1369. No abstract available.
• Hypoglycemia in newborns and infants.  Dekelbab BH, Sperling MA. Adv Pediatr. 2006;53:5-22. Review. No abstract available.
• Congenital disorders of N-glycosylation including diseases associated with O-as well as N-glycosylation defects.  Leroy JG.  Pediatr Res. 2006 Dec;60(6):643-56. Epub 2006 Oct 25. Review.
• NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols..   Liou HL, Dixit SS, Xu S, Tint GS, Stock AM, Lobel P.  J Biol Chem. 2006 Dec 1;281(48):36710-23. Epub 2006 Oct 2.
• Molecular mechanisms of neonatal hyperinsulinism.  Giurgea I, Bellanne-Chantelot C, Ribeiro M, Hubert L, Sempoux C, Robert JJ, Blankenstein O, Hussain K, Brunelle F, Nihoul-Fekete C, Rahier J, Jaubert F, de Lonlay P.  Horm Res. 2006;66(6):289-96. Epub 2006 Sep 26. Review.
• Recent advances in hyperinsulinemic hypoglycemia of infancy.  Dekelbab BH, Sperling MA.  Acta Paediatr. 2006 Oct;95(10):1157-64. Review.
• Glycosylation in cellular mechanisms of health and disease.  Ohtsubo K, Marth JD.  Cell. 2006 Sep 8;126(5):855-67. Review.
• Prenatal Diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops.  Edwards M, McKenzie F, O'callaghan S, Somerset D, Woodford P, Spilsbury J, Fietz M, Fletcher J.  Prenat Diagn. 2006 Oct;26(10):985-8.
• Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.  Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC.  Am J Hum Genet. 2006 Sep;79(3):562-6. Epub 2006 Jul 19.  Erratum in: Am J Hum Genet. 2006 Nov;79(5):985.
• Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.   Thiel C, Lubke T, Matthijs G, von Figura K, Korner C.  Mol Cell Biol. 2006 Aug;26(15):5615-20.
• Pathophysiology of impaired ovarian function in galactosaemia.  Forges T, Monnier-Barbarino P, Leheup B, Jouvet P.  Hum Reprod Update.  2006 Sep-Oct;12(5):573-84. Epub 2006 Jul 11. Review.
• Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.  Cohn RD, Eklund E, Bergner AL, Casella JF, Woods SL, Althaus J, Blakemore KJ, Fox HE, Hoover-Fong JE, Hamosh A, Braverman NE, Freeze HH, Boyadjiev SA.  Pediatrics. 2006 Aug;118(2):e514-21. Epub 2006 Jun 30.
• Glycomics: From glycobiology to diagnostics and therapeutics.  Bedford C, Cas T, Francois I, Harding S.  Drug News Perspect. 2006 Apr;19(3):163-72.
• Clinical approach to treatable inborn metabolic diseases: an introduction.  Saudubray JM, Sedel F, Walter JH.  J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):261-74. Review.
• Genetic defects in the human glycome.  Freeze HH.  Nat Rev Genet. 2006 Jul;7(7):537-51. Epub 2006 Jun 6. Review.  Erratum in: Nat Rev Genet. 2006 Aug;7(8):660.
• A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.  Dancourt J, Vuillaumier-Barrot S, de Baulny HO, Sfaello I, Barnier A, le Bizec C, Dupre T, Durand G, Seta N, Moore SE.  Pediatr Res. 2006 Jun;59(6):835-9.  Epub 2006 Apr 26.
• Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia.  Hahn SH, Minnich SJ, O'Brien JF.   Inherit Metab Dis. 2006 Feb;29(1):235-7.
• 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.
• The congenital disorders of glycosylation: a multifaceted group of syndromes.  Eklund EA, Freeze HH.  NeuroRx. 2006 Apr;3(2):254-63. Review.
• Diagnosis of congenital disorders of glycosylation type-I using protein chip technology.  Mills K, Mills P, Jackson M, Worthington V, Beesley C, Mann A, Clayton P, Grunewald S, Keir G, Young L, Langridge J, Mian N, Winchester B.  Proteomics. 2006 Apr;6(7):2295-304.
• The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a.  Silvaggi NR, Zhang C, Lu Z, Dai J, Dunaway-Mariano D, Allen KN.  J Biol Chem. 2006 May 26;281(21):14918-26. Epub 2006 Mar 15.
• 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.
• Mass spectrometry for congenital disorders of glycosylation, CDG.  Wada Y.  J Chromatogr B Analyt Technol Biomed Life Sci.  2006 Jun 21;838(1):3-8. Epub 2006  Mar 6. Review.  Erratum in: J Chromatogr B Analyt Technol Biomed Life Sci.  2006 Aug 18;840(2):146.
• Inherited disorders of glycosylation.Sparks SE.  Mol Genet Metab.  2006 Jan;87(1):1-7.  Review. No abstract available.
• Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review.  Wopereis S, Lefeber DJ, Morava E, Wevers RA.  J Inherit Metab Dis. 2007 Clin Chem. 2006 Apr;52(4):574-600. Epub 2006 Feb 23. Review.
• Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult.   Schoffer KL, O'Sullivan JD, McGill J.  Mov Disord. 2006 Jun;21(6):869-72.

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2005 CDG Publications

• Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.  Eklund EA, Sun L, Yang SP, Pasion RM, Thorland EC, Freeze HH.  Glycobiology and Carbohydrate Chemistry Program, The Burnham Institute, 10901 N Torrey Pines Road, La Jolla, CA 92037, USA.  Biochem Biophys Res Commun. 2006 Jan 20;339(3):755-60.
• Identification of glycoconjugates in the urine of a patient with congenital disorder of glycosylation by high-resolution mass spectrometry.  Vakhrushev SY, Mormann M, Peter-Katalinic J.  Institute for Medical Physics and Biophysics, Biomedical Analysis Department, University of Munster, Munster, Germany  Proteomics. 2005 Dec 21;
• Clinical and Biochemical Characterization of a Patient with Congenital Disorder of Glycosylation (CDG) IIx.  Miura Y, Tay SK, Aw MM, Eklund EA, Freeze HH.  The Burnham Institute, Program for Glycobiology and Carbohydrate Chemistry, La Jolla, Calif, and the Department of Paediatrics, National University of Singapore, Singapore.  J Pediatr. 2005 Dec;147(6):851-3.
• Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.  Eklund EA, Sun L, Westphal V, Northrop JL, Freeze HH, Scaglia F  Glycobiology and Carbohydrate Chemistry Program, The Burnham Institute, La Jolla, California; and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. J Pediatr. 2005 Dec;147(6):847-50.
• Notch deficiency implicated in the pathogenesis of congenital disorder of glycosylation IIc.  Ishikawa HO, Higashi S, Ayukawa T, Sasamura T, Kitagawa M, Harigaya K, Aoki K, Ishida N, Sanai Y, Matsuno K.  Genome and Drug Research Center and Department of Biological Science and Technology, Tokyo University of Science, Noda, Chiba 278-8510, Japan.  Proc Natl Acad Sci U S A. 2005 Dec 20;102(51):18532-7. Epub 2005 Dec 12.
• Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card.  Nogueira C, Quelhas D, Vilarinho L.  Instituto de Genetica Medica, Praca Pedro Nunes, 88, 4050-029 Porto, Portugal.  Mol Genet Metab. 2005 Dec 9;
• Ablation of mouse phosphomannose isomerase (Mpi) causes mannose-6-phosphate accumulation, toxicity, and embryonic lethality.  Derossi C, Bode L, Eklund EA, Zhang F, Davis JA, Westphal V, Wang L, Borowsky AD, Freeze HH.  Glycobiology and Carbohydrate Chemistry, The Burnham Institute for Medical Research, La Jolla, CA 92037. J Biol Chem. 2005 Dec 8;
• Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes.  Hertz-Pannier L, Dechaux M, Sinico M, Emond S, Cormier-Daire V, Saudubray JM, Brunelle F, Niaudet P, Seta N, de Lonlay P. Department of Paediatric Radiology, Hopital Necker-Enfants Malades, 149 rue de Sevres, 75743, Paris Cedex 15, France Pediatr Radiol. 2005 Nov 22;:1-7
• Altered glycan structures: the molecular basis of congenital disorders of glycosylation.  Freeze HH, Aebi M.  The Burnham Institute, Glycobiology and Carbohydrate Chemistry Program, 10901 North Torrey Pines Road, La Jolla, CA 92037, USA. Curr Opin Struct Biol. 2005 Oct;15(5):490-8.
• 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.   Department of Biochemical Genetics, Academic Hospital Maastricht, The Netherlands. J Inherit Metab Dis. 2005;28(5):707-14.
• Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development.  Cromphout K, Keldermans L, Snellinx A, Collet JF, Grunewald S, De Geest N, Sciot R, Vanschaftingen E, Jaeken J, Matthijs G, Hartmann D.  Division of Clinical Genetics, Center for Human Genetics, Katholieke Universiteit Leuven, Herestraat 49, 3000 Leuven, Belgium. Eur J Neurosci. 2005 Aug;22(4):991-6.
• Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.  Eklund EA, Merbouh N, Ichikawa M, Nishikawa A, Clima JM, Dorman JA, Norberg T, Freeze HH.  The Burnham Institute, La Jolla, CA 92037, USA. Glycobiology. 2005 Nov;15(11):1084-93. Epub 2005 Aug 3.
• CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).  Schollen E, Grunewald S, Keldermans L, Albrecht B, Korner C, Matthijs G.  Center for Human Genetics, UZ Leuven, Leuven, Belgium.  Eur J Med Genet. 2005 Apr-Jun;48(2):153-8. Epub 2005 Feb 17.
• Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.  Wopereis S, Morava E, Grunewald S, Adamowicz M, Huijben KM, Lefeber DJ, Wevers RA.  Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, The Netherlands.   Glycobiology. 2005 Dec;15(12):1312-9. Epub 2005 Jul 21.
• 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.  Istituto di Chimica e Tecnolgia dei Polimeri, CNA, Viale Regina Margherita 6, I-95123 Catania, Italy.  Glycobiology. 2005 Dec;15(12):1268-76. Epub 2005 Jul 21.
• Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient.  Sun L, Eklund EA, Van Hove JL, Freeze HH, Thomas JA. The Burnham Institute, La Jolla, CA 92037, USA.  Am J Med Genet A. 2005 Aug 15;137(1):22-6.
• A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.  Wopereis S, Morava E, Grunewald S, Mills PB, Winchester BG, Clayton P, Coucke P, Huijben KM, Wevers RA.  Radboud University Nijmegen Medical Center, Laboratory of Pediatrics and Neurology, Institute of Neurology, Reinier Postlaan 4, 6525 GC Nijmegen, The Netherlands.  Biochim Biophys Acta. 2005 Jun 30;1741(1-2):156-64. Epub 2004 Dec 9.
• CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.  Weinstein M, Schollen E, Matthijs G, Neupert C, Hennet T, Grubenmann CE, Frank CG, Aebi M, Clarke JT, Griffiths A, Seargeant L, Poplawski N.  Hospital for Sick Children, Pediatrics, Toronto, Ontario, Canada.   Am J Med Genet A. 2005 Jul 15;136(2):194-7.
• Core fucosylation of N-linked glycans in leukocyte adhesion deficiency/congenital disorder of glycosylation IIc fibroblasts.  Sturla L, Fruscione F, Noda K, Miyoshi E, Taniguchi N, Contini P, Tonetti M. Department of Experimental Medicine,and Center of Excellence for Biomedical Research, University of Genova, Viale Benedetto XV, 1, 16132, Genova, Italy. Glycobiology. 2005 Oct;15(10):924-34. Epub 2005 May 25.
• A new insight into PMM2 mutations in the French population.  Le Bizec C, Vuillaumier-Barrot S, Barnier A, Dupre T, Durand G, Seta N.  Biochimie A, Hopital Bichat-Claude Bernard, 75877 Paris cedex 18, France.  Hum Mutat. 2005 May;25(5):504-5.
• Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia.  Sun L, Eklund EA, Chung WK, Wang C, Cohen J, Freeze HH.  The Burnham Institute, Program for Glycobiology and Carbohydrate Chemistry, 10901 North Torrey Pines Road, La Jolla, California 92037, USA.  J Clin Endocrinol Metab. 2005 Jul;90(7):4371-5. Epub 2005 Apr 19.
• Molecular diagnosis of congenital disorders of glycosylation Vuillaumier-Barrot S.  Laboratoire de biochimie A, Hopital Bichat (AP-HP), Paris, France. Ann Biol Clin (Paris). 2005 Mar-Apr;63(2):135-43.
• Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Aronica E, van Kempen AA, van der Heide M, Poll-The BT, van Slooten HJ, Troost D, Rozemuller-Kwakkel JM.  Department of (Neuro)Pathology, Academic Medical Center, University of Amsterdam, The Netherlands,  Acta Neuropathol (Berl). 2005 Feb 16
• Analysis of glycosylation in CDG-IA fibroblasts by fluorophore-assisted carbohydrate electrophoresis: Implications for extracellular glucose and intracellular mannose-6-phosphate.  Gao N, Shang J, Lehrman MA. Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas, TX, USA.  J Biol Chem. 2005 Feb 11
• O-fucosylation of notch occurs in the endoplasmic reticulum. Luo Y, Haltiwanger RS.,  Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, New York, USA. J Biol Chem. 2005 Jan 14
• Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema.  Noelle V, Knuepfer M, Pulzer F, Schuster V, Siekmeyer W, Matthijs G, Vogtmann C.,  University Children's Hospital, Oststrasse, Leipzig, Germany  Eur J Pediatr. 2005 Jan 12
• Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig. Eklund EA, Newell JW, Sun L, Seo NS, Alper G, Willert J, Freeze HH., The Burnham Institute, Glycobiology and Carbohydrate Chemistry Program, La Jolla, CA, USA.  Mol Genet Metab. 2005 Jan;84
• Genome-wide analysis of the unfolded protein response in fibroblasts from congenital disorders of glycosylation type-I patients. Lecca MR, Wagner U, Patrignani A, Berger EG, Hennet T.,  Institute of Physiology, University of Zurich, Switzerland.  FASEB J. 2005 Feb;19(2):240-2. Epub 2004 Nov 15.

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2004 CDG Publications

• Congenital disorder of glycosylation (CDG) type Ie. A new patient. Garcia-Silva MT, Matthijs G, Schollen E, Cabrera JC, Sanchez del Pozo J, Marti Herreros M, Simon R, Maties M, Martin Hernandez E, Hennet T, Briones P.,  Department of Paediatrics, Hospital 12 de Octubre, Madrid, Spain.   J Inherit Metab Dis. 2004;27(5):591-600.
• Improvement of CDG diagnosis by combined examination of several glycoproteins. Fang J, Peters V, Korner C, Hoffmann GF.,  Universitats-Kinderklinik, Sektion fur Metabolische und Endokrinologische Erkrankungen, Heidelberg, Germany.   J Inherit Metab Dis. 2004;27(5):581-90.
• 0,2An cross-ring cleavage as a general diagnostic tool for glycan assignment in glycoconjugate mixtures. Vakhrushev SY, Zamfir A, Peter-Katalinic J. Biomedical Analysis Group, Institute for Medical Physics and Biophysics, University of Munster, Munster, Germany.  J Am Soc Mass Spectrom. 2004 Dec;15(12):1863-8.
• Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.  Martinez-Duncker I, Dupre T, Piller V, Piller F, Candelier JJ, Trichet C, Tchernia G, Oriol R, Mollicone R.  INSERM U504, GDR CNRS 2590, University of Paris Sud XI, Villejuif, France.  Blood. 2004 Dec 2.
• Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.  Schollen E, Kjaergaard S, Martinsson T, Vuillaumier-Barrot S, Dunoe M, Keldermans L, Seta N, Matthijs G. J Med Genet. 2004 Nov;41.
• The Lec23 Chinese hamster ovary mutant is a sensitive host for detecting mutations in alpha-glucosidase I that give rise to congenital disorder of glycosylation IIb (CDG IIb).  Hong Y, Sundaram S, Shin DJ, Stanley P., Department of Cell Biology, Albert Einstein College of Medicine, New York, USA.
  J Biol Chem. 2004 Nov 26;279(48):49894-901. Epub 2004 Sep 21.
• Carbohydrate deficient glycoprotein syndrome type Ia. Chu KL, Chien YH, Tsai CE, Freeze HH, Eklund E, Hwu WL. Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei. J Formos Med Assoc. 2004 Sep;103(9):721-3.
• Screening for CDG type Ia in Joubert syndrome. Morava E, Cser B, Karteszi J, Huijben K, Szonyi L, Kosztolanyi G, Wevers R.,  Department of Pediatrics, University Medical Center Nijmegen, Nijmegen, The Netherlands. Med Sci Monit. 2004 Aug;10(8):CR469-72. Epub 2004 Jul 23.
• Congenital disorders of glycosylation: a booming chapter of pediatrics. Jaeken J, Carchon H., Department of Pediatrics, Centre for Metabolic Disease, Katholieke Universiteit Leuven, Leuven, Belgium. Curr Opin Pediatr. 2004 Aug;16(4):434-9.
• Congenital disorders of glycosylation (CDG): update and new developments. Jaeken J,   Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium. J Inherit Metab Dis. 2004;27(3):423-6.
• Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BG, Smeitink J, Wevers RA, Aebi M, Hennet T, Matthijs G.
  J Med Genet. 2004 Jul;41(7):550-6.
• Congenital disorders of glycosylation: state of the art and Spanish experience Vilaseca MA, Artuch R, Briones P. Servei de Bioquimica, Hospital Sant Joan de Deu, Passeig Sant Joan de Deu 2, 08950 Esplugues de Llobregat, Barcelona, Spain.  Med Clin (Barc). 2004 May 15;122(18):707-16.
• Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.  Frank CG, Grubenmann CE, Eyaid W, Berger EG, Aebi M, Hennet T., Institute of Microbiology, Swiss Federal Institute of Technology, Zurich, Switzerland.  Am J Hum Genet. 2004 Jul;75(1):146-50. Epub 2004 May 17.
• An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id). Denecke J, Kranz C, Kemming D, Koch HG, Marquardt T., Department of Pediatrics, University Hospital of Munster, Munster, Germany.  Hum Mutat. 2004 May;23(5):477-86.
• Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Wu X, Steet RA, Bohorov O, Bakker J, Newell J, Krieger M, Spaapen L, Kornfeld S, Freeze HH., The Burnham Institute, La Jolla, California, USA.  Nat Med. 2004 May;10(5):518-23. Epub 2004 Apr 25.
• Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic. Damen G, de Klerk H, Huijmans J, den Hollander J, Sinaasappel M.,  Department of Pediatric Gastroenterology, Erasmus MC/Sophia Children Hospital, Rotterdam, the Netherlands.   J Pediatr Gastroenterol Nutr. 2004 Mar;38(3):282-7.
• CDG IIx with unusual phenotype. Cheillan D, Cognat S, Dorche C, Jaeken J, Vianey-Saban C, Guffon N., Service de Biochimie Pediatrique, Hopital Debrousse, Lyon, France.   J Inherit Metab Dis. 2004;27(1):103-4.
• The prenatal diagnosis of congenital disorders of glycosylation (CDG). Matthijs G, Schollen E, Van Schaftingen E. Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.  Prenat Diagn. 2004 Feb;24(2):114-6.
• Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. Kranz C, Denecke J, Lehle L, Sohlbach K, Jeske S, Meinhardt F, Rossi R, Gudowius S, Marquardt T., Klinik und Poliklinik fur Kinderheilkunde, Muenster, Germany.  Am J Hum Genet. 2004 Mar;74(3):545-51. Epub 2004 Feb 17.
• Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. Schwarz M, Thiel C, Lubbehusen J, Dorland B, de Koning T, von Figura K, Lehle L, Korner C.,  Universitat Regensburg, Lehrstuhl fur Zellbiologie und Pflanzenphysiologie, Regensburg, Germany.  Am J Hum Genet. 2004 Mar;74(3):472-81. Epub 2004 Feb 16.
• Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Grubenmann CE, Frank CG, Hulsmeier AJ, Schollen E, Matthijs G, Mayatepek E, Berger EG, Aebi M, Hennet T., Institute of Physiology, University of Zurich, Zurich, Switzerland.  Hum Mol Genet. 2004 Mar 1;13(5):535-42. Epub 2004 Jan 06.
• Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin. Carchon HA, Chevigne R, Falmagne JB, Jaeken J.,  Department of Pediatrics, Center for Metabolic Disease, Katholieke Universiteit Leuven, Leuven, Belgium.  Clin Chem. 2004 Jan;50(1):101-11. Epub 2003 Nov 18.

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2003 CDG Publications

• Mass spectrometric analysis of human transferrin in different body fluids. Kleinert P, Kuster T, Durka S, Ballhausen D, Bosshard NU, Steinmann B, Hanseler E, Jaeken J, Heizmann CW, Troxler H., Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zurich, Zurich, Switzerland.
  Clin Chem Lab Med. 2003 Dec;41(12):1580-8.
• Congenital disorders of glycosylation Ferens-Sieczkowska M., Katedra i Zaklad Chemii i Immunochemii Akademii Medycznej we Wroclawiu.,  Postepy Hig Med Dosw. 2003;57(4):425-44.
• Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Wopereis S, Grunewald S, Morava E, Penzien JM, Briones P, Garcia-Silva MT, Demacker PN, Huijben KM, Wevers RA., University Medical Center Nijmegen, Laboratory of Pediatrics and Neurology, Nijmegen, The Netherlands., Clin Chem. 2003 Nov;49(11):1839-45.
• Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic. Westphal V, Xiao M, Kwok PY, Freeze HH.,  The Burnham Institute, La Jolla, California, USA., Hum Mutat. 2003 Nov;22(5):420-1.
• Congenital disorders of glycosylation. Durand G, Dupre T, Vuillaumier-Barrot S, Seta N., Laboratoire de Biochimie, Groupe hospitalier Xavier Bichat--Claude Bernard, AP-HP 75, 46, rue Huchard, F 75877 Paris Cedex 18. 1: Ann Pharm Fr.
• Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia. Ono H, Sakura N, Yamashita K, Yuasa I, Ohno K., Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Kasumi 1-2-3, Minami-ku, Hiroshima 734-8551, Japan.  Brain Dev. 2003 Oct;25(7):525-8.
• Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia Honzik T, Malonova E, Hansikova H, Rosipal R, Poupetova H, Martasek P, Zeman J., Klinika detskeho a dorostoveho lekarstvi a Centrum integrovane genomiky 1. LF UK a VFN, Praha.  Cas Lek Cesk. 2003;142(5):276-9.
• Failure to thrive and intestinal diseases in congenital disorders of glycosylation Zentilin Boyer M, de Lonlay P, Seta N, Besnard M, Pelatan C, Ogier H, Hugot JP, Faure C, Saudubray JM, Navarro J, Cezard JP.,  Service de gastro-enterologie, hopital Robert-Debre, AP-HP, 48, boulevard Serrurier, 75019 Paris, France.  Arch Pediatr. 2003 Jul;10(7):590-5.
• Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.  Neumann LM, von Moers A, Kunze J, Blankenstein O, Marquardt T., Institute of Human Genetics, Charite Campus Virchow-Klinikum, Berlin, Germany  Eur J Pediatr. 2003 Oct;162(10):710-3. Epub 2003 Aug 02.
• Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx .  Mills PB, Mills K, Mian N, Winchester BG, Clayton PT.,   Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health at Great Ormond Street Hospital, University College London, UK.  J Inherit Metab Dis. 2003;26(2-3):119-34.
• Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!  Jaeken J., Department of Pediatrics, Centre for Metabolic Disease, University Hospital Gasthuisberg, Leuven, Belgium.  J Inherit Metab Dis. 2003;26(2-3):99-118.
• Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms. Penel-Capelle D, Dobbelaere D, Jaeken J, Klein A, Cartigny M, Weill J., Unit of Metabolic Diseases, Department of Pediatrics, Lille University Children's Hospital, Lille, France.   J Inherit Metab Dis. 2003;26(1):83-5.
• Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG). Grunewald S, De Vos R, Jaeken J., Department of Paediatrics, University of Essen, Essen, Germany.   J Inherit Metab Dis. 2003;26(1):49-54.
• Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH., The Burnham Institute, La Jolla, California, USA.   Hum Mutat. 2003 Aug;22(2):144-50.
• Congenital disorder of glycosylation Ic in patients of Indian origin. Newell JW, Seo NS, Enns GM, McCraken M, Mantovani JF, Freeze HH., The Burnham Institute, Glycobiology and Carbohydrate Chemistry Program, La Jolla, California, USA.   Mol Genet Metab. 2003 Jul;79(3):221-8.
• Ophthalmic manifestations of congenital disorder of glycosylation type 1a. Jensen H, Kjaergaard S, Klie F, Moller HU., Department of Pediatric Ophthalmology and Handicap, Copenhagen County Hospital, Glostrup, Denmark   Ophthalmic Genet. 2003 Jun;24(2):81-8.
• Androgen therapy in constitutional delay of growth.  Lampit M, Hochberg Z., Meyer Children's Hospital, Rambam Medical Center, Haifa, Israel.   Horm Res. 2003;59(6):270-5.
• Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis.  Butler M, Quelhas D, Critchley AJ, Carchon H, Hebestreit HF, Hibbert RG, Vilarinho L, Teles E, Matthijs G, Schollen E, Argibay P, Harvey DJ, Dwek RA, Jaeken J, Rudd PM.,  The Glycobiology Institute, Department of Biochemistry, Oxford University, Oxford, UK.   Glycobiology. 2003 Sep;13(9):601-22. Epub 2003 May 28.
• Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation.  Artuch R, Ferrer I, Pineda J, Moreno J, Busquets C, Briones P, Vilaseca MA., Servei de Bioqui;mica, Hospital Sant Joan de Deu-Universitat de Barcelona, Barcelona, Spain.   J Neurosci Methods. 2003 May 30;125(1-2):167-71.
• Molecular physiology and pathology of the nucleotide sugar transporter family (SLC35).  Ishida N, Kawakita M.,  Department of Biochemical Cell Research, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan   Pflugers Arch. 2004 Feb;447(5):768-75. Epub 2003 May 21.
• Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.  Marquardt T, Denecke J.,  Klinik und Poliklinik fur Kinderheilkunde, Munster, Germany   Eur J Pediatr. 2003 Jun;162(6):359-79. Epub 2003 Mar 15.
• Differential terminal fucosylation of N-linked glycans versus protein O-fucosylation in leukocyte adhesion deficiency type II (CDG IIc).  Sturla L, Rampal R, Haltiwanger RS, Fruscione F, Etzioni A, Tonetti M.   Giannina Gaslini Institute, 16147 Genova, Italy.   J Biol Chem. 2003 Jul 18;278(29):26727-33. Epub 2003 May 08.
• Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection.  Orvisky E, Stubblefield B, Long RT, Martin BM, Sidransky E, Krasnewich D., Clinical Neuroscience Branch, NIMH, National Institutes of Health, Bethesda, MD, USA.   Anal Biochem. 2003 Jun 1;317(1):12-8.
• Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia.  Miossec-Chauvet E, Mikaeloff Y, Heron D, Merzoug V, Cormier-Daire V, de Lonlay P, Matthijs G, Van Hulle C, Ponsot G, Seta N.,  Neurology Department, Cochin-Saint-Vincent de Paul Hospital, AP-HP, France.   Neuropediatrics. 2003 Feb;34(1):1-6.
• A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.  Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschutter A, von Figura K, Lehle L, Korner C.,  Georg-August-Universitat Gottingen, Biochemie II, Gottingen, Germany.,   J Biol Chem. 2003 Jun 20;278(25):22498-505. Epub 2003 Apr 08.
• The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random.  Mills K, Mills PB, Clayton PT, Mian N, Johnson AW, Winchester BG.,  Biochemistry Endocrinology and Metabolism Unit, Institute of Child Health At Great Ormond Street Hospital, University College London, London, UK.   Glycobiology. 2003 Feb;13(2):73-85. Epub 2002 Dec 17.
• Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I.  Callewaert N, Schollen E, Vanhecke A, Jaeken J, Matthijs G, Contreras R.,  Department of Molecular Biomedical Research, Ghent University and Flanders Interuniversity Institute for Biotechnology, Ghent, Belgium  Glycobiology. 2003 May;13(5):367-75. Epub 2003 Jan 22.
• Hair changes in congenital disorders of glycosylation (CDG type 1).  Silengo M, Valenzise M, Pagliardini S, Spada M., Clinical Genetics, Department of Paediatrics, University of Turin, Turin, Italy.  Eur J Pediatr. 2003 Feb;162(2):114-5.
• Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib.  Li Y, Ogata Y, Freeze HH, Scott CR, Turecek F, Gelb MH., Department of Chemistry, University of Washington, Seattle, Washington, USA.   Anal Chem. 2003 Jan 1;75(1):42-8.
• A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. Chantret I, Dancourt J, Dupre T, Delenda C, Bucher S, Vuillaumier-Barrot S, Ogier de Baulny H, Peletan C, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE., Unite de Glycobiologie et Signalisation Cellulaire, INSERM, U504, Batiment INSERM, Villejuif, France.   J Biol Chem. 2003 Mar 14;278(11):9962-71. Epub 2002 Dec 11.

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OMIM, Online Mendelian Inheritance in Man Database CDG Listing

• CDG-Ia   212065
• CDG-Ib   602579
• CDG-Ic   603147
• CDG-Id   601110
• CDG-Ie   608799
• CDG-If   609180
• CDG-Ig   607143
• CDG-Ih   608104
• CDG-Ii   607906
• CDG-Ij   608093
• CDG-Ik   608540
• CDG-IL   608776
• CDG-Im   610768
• CDG-In   612015
• CDG-IIa   212066
• CDG-IIb   606056
• CDG-IIc   266265
• CDG-IId   607091
• CDG-IIe   608779
• CDG-IIf   603585
• CDG-IIg   611209
• CDG-IIh   611182

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