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Items: 1 to 20 of 202

1.

N-Glycosylation influences human corticosteroid-binding globulin measurements.

Hill L, Sumer-Bayraktar Z, Lewis JG, Morava E, Thaysen-Andersen M, Hammond GL.

Endocr Connect. 2019 Jul 1. pii: EC-19-0242.R1. doi: 10.1530/EC-19-0242. [Epub ahead of print]

PMID:
31307013
Free Article
2.

Research activity and capability in the European reference network MetabERN.

Heard JM, Bellettato C, van Lingen C, Scarpa M; MetabERN collaboration group.

Orphanet J Rare Dis. 2019 May 29;14(1):119. doi: 10.1186/s13023-019-1091-8.

3.

N-Glycosylation Defects in Man Lower LDL-Cholesterol Through Increased LDL Receptor Expression.

van den Boogert MAW, Larsen LE, Ali L, Kuil SD, Chong PLW, Loregger A, Kroon J, Schnitzler JG, Schimmel AWM, Peter J, Levels JHM, Steenbergen G, Morava E, Dallinga-Thie GM, Wevers RA, Kuivenhoven JA, Hand NJ, Zelcer N, Rader DJ, Stroes ESG, Lefeber DJ, Holleboom AG.

Circulation. 2019 May 23. doi: 10.1161/CIRCULATIONAHA.118.036484. [Epub ahead of print]

PMID:
31117816
4.

A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality.

Balakrishnan B, Verheijen J, Lupo A, Raymond K, Turgeon C, Yang Y, Carter KL, Whitehead KJ, Kozicz T, Morava E, Lai K.

J Inherit Metab Dis. 2019 May 11. doi: 10.1002/jimd.12110. [Epub ahead of print]

PMID:
31077402
5.

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.

Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B.

Am J Hum Genet. 2019 May 2;104(5):835-846. doi: 10.1016/j.ajhg.2019.03.003. Epub 2019 Apr 11.

PMID:
30982613
6.

A Review of Epigenetics of PTSD in Comorbid Psychiatric Conditions.

Blacker CJ, Frye MA, Morava E, Kozicz T, Veldic M.

Genes (Basel). 2019 Feb 13;10(2). pii: E140. doi: 10.3390/genes10020140. Review.

7.

Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry.

Chen J, Li X, Edmondson A, Meyers GD, Izumi K, Ackermann AM, Morava E, Ficicioglu C, Bennett MJ, He M.

Clin Chem. 2019 May;65(5):653-663. doi: 10.1373/clinchem.2018.296780. Epub 2019 Feb 15.

PMID:
30770376
8.

Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review.

Francisco R, Pascoal C, Marques-da-Silva D, Morava E, Gole GA, Coman D, Jaeken J, Dos Reis Ferreira V.

J Inherit Metab Dis. 2019 Jan;42(1):29-48. doi: 10.1002/jimd.12025. Review.

PMID:
30740740
9.

The phenotype modifier: is the mitochondrial DNA background responsible for individual differences in disease severity.

Morava E, Kozicz T, Wallace DC.

J Inherit Metab Dis. 2019 Jan;42(1):3-4. doi: 10.1002/jimd.12050. No abstract available.

PMID:
30740738
10.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E.

J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. Review. Erratum in: J Inherit Metab Dis. 2019 May;42(3):577.

PMID:
30740725
11.

Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates.

Lefever E, Witters P, Gielen E, Vanclooster A, Meersseman W, Morava E, Cassiman D, Laurent MR.

J Clin Densitom. 2018 Dec 21. pii: S1094-6950(18)30244-0. doi: 10.1016/j.jocd.2018.12.006. [Epub ahead of print]

PMID:
30655187
12.

Propeptide glycosylation and galectin-3 binding decrease proteolytic activation of human proMMP-9/progelatinase B.

Boon L, Ugarte-Berzal E, Martens E, Vandooren J, Rybakin V, Colau D, Gordon-Alonso M, van der Bruggen P, Stöcker W, Becker-Pauly C, Witters P, Morava E, Jaeken J, Proost P, Opdenakker G.

FEBS J. 2019 Mar;286(5):930-945. doi: 10.1111/febs.14698. Epub 2018 Nov 30.

PMID:
30422384
13.

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Witters P, Honzik T, Bauchart E, Altassan R, Pascreau T, Bruneel A, Vuillaumier S, Seta N, Borgel D, Matthijs G, Jaeken J, Meersseman W, Cassiman D, Pascale de L, Morava E.

Genet Med. 2019 May;21(5):1181-1188. doi: 10.1038/s41436-018-0301-4. Epub 2018 Oct 8.

PMID:
30293989
14.

Central nervous involvement is common in PGM1-CDG.

Radenkovic S, Witters P, Morava E.

Mol Genet Metab. 2018 Nov;125(3):200-204. doi: 10.1016/j.ymgme.2018.08.008. Epub 2018 Aug 21. Review.

PMID:
30262252
15.

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Abu Bakar N, Voermans NC, Marquardt T, Thiel C, Janssen MCH, Hansikova H, Crushell E, Sykut-Cegielska J, Bowling F, MØrkrid L, Vissing J, Morava E, van Scherpenzeel M, Lefeber DJ.

Transl Res. 2018 Sep;199:62-76. doi: 10.1016/j.trsl.2018.04.008. Epub 2018 May 10.

16.

Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.

Duvet S, Mouajjah D, Péanne R, Matthijs G, Raymond K, Jaeken J, Morava E, Foulquier F.

Electrophoresis. 2018 Dec;39(24):3133-3141. doi: 10.1002/elps.201800020. Epub 2018 Aug 2.

PMID:
29947113
17.

CDG Therapies: From Bench to Bedside.

Brasil S, Pascoal C, Francisco R, Marques-da-Silva D, Andreotti G, Videira PA, Morava E, Jaeken J, Dos Reis Ferreira V.

Int J Mol Sci. 2018 Apr 27;19(5). pii: E1304. doi: 10.3390/ijms19051304. Review.

18.

Recognizable phenotypes in CDG.

Ferreira CR, Altassan R, Marques-Da-Silva D, Francisco R, Jaeken J, Morava E.

J Inherit Metab Dis. 2018 May;41(3):541-553. doi: 10.1007/s10545-018-0156-5. Epub 2018 Apr 13.

19.

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, Rodenburg RJ, Sperl W, Urban Z, Brandt U, Mayr JA, Wong S, de Brouwer APM, Nijtmans L, Munnich A, Rötig A, Wevers RA, Metodiev MD, Morava E.

Am J Hum Genet. 2018 Apr 5;102(4):685-695. doi: 10.1016/j.ajhg.2018.02.012. Epub 2018 Mar 22.

20.

Mitochondrial Etiology of Psychiatric Disorders: Is This the Full Story?

Kozicz T, Schene A, Morava E.

JAMA Psychiatry. 2018 May 1;75(5):527. doi: 10.1001/jamapsychiatry.2018.0018. No abstract available.

PMID:
29541773

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