Jaeken J - Search Results

1

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.

Tuysuz B, Pehlivan D, Özkök A, Jhangiani S, Yalcinkaya C, Zeybek ÇA, Muzny DM, Lupski JR, Gibbs R, Jaeken J. Tuysuz B, et al. Among authors: jaeken j. JIMD Rep. 2016;26:7-12. doi: 10.1007/8904_2015_478. Epub 2015 Jul 29. JIMD Rep. 2016. PMID: 26219881 Free PMC article.

2

Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.

Zeevaert R, de Zegher F, Sturiale L, Garozzo D, Smet M, Moens M, Matthijs G, Jaeken J. Zeevaert R, et al. Among authors: jaeken j. JIMD Rep. 2013;8:145-52. doi: 10.1007/8904_2012_172. Epub 2012 Aug 22. JIMD Rep. 2013. PMID: 23430531 Free PMC article.

3

An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia.

Calvo PL, Spada M, Rabbone I, Pinon M, Porta F, Cisarò F, Reggiani S, Cefalù AB, Sturiale L, Garozzo D, Lefeber DJ, Jaeken J. Calvo PL, et al. Among authors: jaeken j. JIMD Rep. 2018;38:97-100. doi: 10.1007/8904_2017_35. Epub 2017 Jun 23. JIMD Rep. 2018. PMID: 28643274 Free PMC article.

4

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

Fiumara A, Barone R, Del Campo G, Striano P, Jaeken J. Fiumara A, et al. Among authors: jaeken j. JIMD Rep. 2016;27:93-9. doi: 10.1007/8904_2015_497. Epub 2015 Oct 10. JIMD Rep. 2016. PMID: 26453362 Free PMC article.

5

Galactose Epimerase Deficiency: Expanding the Phenotype.

Dias Costa F, Ferdinandusse S, Pinto C, Dias A, Keldermans L, Quelhas D, Matthijs G, Mooijer PA, Diogo L, Jaeken J, Garcia P. Dias Costa F, et al. Among authors: jaeken j. JIMD Rep. 2017;37:19-25. doi: 10.1007/8904_2017_10. Epub 2017 Mar 1. JIMD Rep. 2017. PMID: 28247339 Free PMC article.

6

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

Millón MB, Delgado MA, Azar NB, Guelbert N, Sturiale L, Garozzo D, Matthijs G, Jaeken J, de Kremer RD, Asteggiano CG. Millón MB, et al. Among authors: jaeken j. JIMD Rep. 2011;1:65-72. doi: 10.1007/8904_2011_18. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430830 Free PMC article.

7

Congenital disorders of glycosylation.

Jaeken J. Jaeken J. Handb Clin Neurol. 2013;113:1737-43. doi: 10.1016/B978-0-444-59565-2.00044-7. Handb Clin Neurol. 2013. PMID: 23622397 Review.

8

Congenital disorders of glycosylation.

Jaeken J. Jaeken J. Ann N Y Acad Sci. 2010 Dec;1214:190-8. doi: 10.1111/j.1749-6632.2010.05840.x. Ann N Y Acad Sci. 2010. PMID: 21175687 Review.

9

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: jaeken j. 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.

10

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.

Quelhas D, Jaeken J, Fortuna A, Azevedo L, Bandeira A, Matthijs G, Martins E. Quelhas D, et al. Among authors: jaeken j. JIMD Rep. 2019;43:111-116. doi: 10.1007/8904_2018_112. Epub 2018 Jun 20. JIMD Rep. 2019. PMID: 29923091 Free PMC article.

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