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114 results

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Page 1
SLC37A4-CDG: Second patient.
Wilson MP, Quelhas D, Leão-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J. Wilson MP, et al. Among authors: foulquier f. JIMD Rep. 2021 Jan 6;58(1):122-128. doi: 10.1002/jmd2.12195. eCollection 2021 Mar. JIMD Rep. 2021. PMID: 33728255 Free PMC 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. Foulquier F, et al. Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3764-9. doi: 10.1073/pnas.0507685103. Epub 2006 Feb 28. Proc Natl Acad Sci U S A. 2006. PMID: 16537452 Free PMC article.
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. Schollen E, et al. Among authors: foulquier f. Mol Genet Metab. 2007 Apr;90(4):408-13. doi: 10.1016/j.ymgme.2007.01.003. Epub 2007 Feb 16. Mol Genet Metab. 2007. PMID: 17307006
Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
Reynders E, Foulquier F, Leão Teles E, Quelhas D, Morelle W, Rabouille C, Annaert W, Matthijs G. Reynders E, et al. Among authors: foulquier f. Hum Mol Genet. 2009 Sep 1;18(17):3244-56. doi: 10.1093/hmg/ddp262. Epub 2009 Jun 3. Hum Mol Genet. 2009. PMID: 19494034 Free PMC article.
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. Zeevaert R, et al. Among authors: foulquier f. Eur J Med Genet. 2009 Sep-Oct;52(5):303-5. doi: 10.1016/j.ejmg.2009.06.006. Epub 2009 Jul 3. Eur J Med Genet. 2009. PMID: 19577670
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. Vleugels W, et al. Among authors: foulquier f. Hum Mutat. 2009 Oct;30(10):1428-34. doi: 10.1002/humu.21085. Hum Mutat. 2009. PMID: 19701946 Free PMC article.
114 results