Morava E - Search Results

1

False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency.

Stuhrman G, Perez Juanazo SJ, Crivelly K, Smith J, Andersson H, Morava E. Stuhrman G, et al. Among authors: morava e. JIMD Rep. 2017;36:1-5. doi: 10.1007/8904_2016_34. Epub 2017 Jan 12. JIMD Rep. 2017. PMID: 28078493 Free PMC article.

2

Management dilemmas in patients with hereditary renal adysplasia.

Morava E, Smith C, Pierce M, Andersson HC. Morava E, et al. J La State Med Soc. 2001 Jan;153(1):27-30. J La State Med Soc. 2001. PMID: 11272448

3

Focal skin defect, limb anomalies and microphthalmia.

Morava É, Jackson KE, Andersson HC. Morava É, et al. Clin Dysmorphol. 2004 Apr;13(2):113-115. Clin Dysmorphol. 2004. PMID: 15057130

4

Causes of Death in Adults with Mitochondrial Disease.

Barends M, Verschuren L, Morava E, Nesbitt V, Turnbull D, McFarland R. Barends M, et al. Among authors: morava e. JIMD Rep. 2016;26:103-13. doi: 10.1007/8904_2015_449. Epub 2015 Sep 10. JIMD Rep. 2016. PMID: 26354038 Free PMC article.

5

Autism in patients with propionic acidemia.

Witters P, Debbold E, Crivelly K, Vande Kerckhove K, Corthouts K, Debbold B, Andersson H, Vannieuwenborg L, Geuens S, Baumgartner M, Kozicz T, Settles L, Morava E. Witters P, et al. Among authors: morava e. Mol Genet Metab. 2016 Dec;119(4):317-321. doi: 10.1016/j.ymgme.2016.10.009. Epub 2016 Oct 31. Mol Genet Metab. 2016. PMID: 27825584

6

Oral D-galactose supplementation in PGM1-CDG.

Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E. Wong SY, et al. Among authors: morava e. Genet Med. 2017 Nov;19(11):1226-1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617415 Free PMC article. Clinical Trial.

7

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.

Witters P, Andersson H, Jaeken J, Tseng L, van Karnebeek CDM, Lefeber DJ, Cassiman D, Morava E. Witters P, et al. Among authors: morava e. Orphanet J Rare Dis. 2021 Mar 20;16(1):138. doi: 10.1186/s13023-020-01609-z. Orphanet J Rare Dis. 2021. PMID: 33743737 Free PMC article. Clinical Trial.

8

PMM2-CDG caused by uniparental disomy: Case report and literature review.

Vaes L, Tiller GE, Pérez B, Boyer SW, Berry SA, Sarafoglou K, Morava E. Vaes L, et al. Among authors: morava e. JIMD Rep. 2020 Apr 28;54(1):16-21. doi: 10.1002/jmd2.12122. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685345 Free PMC article.

9

Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy.

Donoghue SE, White SM, Tan TY, Kowalski R, Morava E, Yaplito-Lee J. Donoghue SE, et al. Among authors: morava e. JIMD Rep. 2020 Oct 19;57(1):29-37. doi: 10.1002/jmd2.12177. eCollection 2021 Jan. JIMD Rep. 2020. PMID: 33473337 Free PMC article.

10

Normal transferrin glycosylation does not rule out severe ALG1 deficiency.

Bosnyak I, Sadek M, Ranatunga W, Kozicz T, Morava E. Bosnyak I, et al. Among authors: morava e. JIMD Rep. 2024 Apr 16;65(3):135-143. doi: 10.1002/jmd2.12415. eCollection 2024 May. JIMD Rep. 2024. PMID: 38736633 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

447 results

Search Page