Search Page
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
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression.
PLoS One. 2022 Sep 9;17(9):e0274310. doi: 10.1371/journal.pone.0274310. eCollection 2022.
PLoS One. 2022.
PMID: 36084111
Free PMC article.
New insights into the phenotype of FARS2 deficiency.
Vantroys E, Larson A, Friederich M, Knight K, Swanson MA, Powell CA, Smet J, Vergult S, De Paepe B, Seneca S, Roeyers H, Menten B, Minczuk M, Vanlander A, Van Hove J, Van Coster R.
Vantroys E, et al.
Mol Genet Metab. 2017 Dec;122(4):172-181. doi: 10.1016/j.ymgme.2017.10.004. Epub 2017 Oct 12.
Mol Genet Metab. 2017.
PMID: 29126765
Free PMC article.
Item in Clipboard
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.
Vantroys E, Smet J, Vanlander AV, Vergult S, De Bruyne R, Roels F, Stepman H, Roeyers H, Menten B, Van Coster R.
Vantroys E, et al.
Orphanet J Rare Dis. 2018 May 21;13(1):80. doi: 10.1186/s13023-018-0822-6.
Orphanet J Rare Dis. 2018.
PMID: 29783990
Free PMC article.
Item in Clipboard
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT.
Hemelsoet DM, Vanlander AV, Smet J, Vantroys E, Acou M, Goethals I, Sante T, Seneca S, Menten B, Van Coster R.
Hemelsoet DM, et al. Among authors: vantroys e.
Neurol Genet. 2018 Nov 27;4(6):e298. doi: 10.1212/NXG.0000000000000298. eCollection 2018 Dec.
Neurol Genet. 2018.
PMID: 30569017
Free PMC article.
Item in Clipboard
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Van Den Bogaert K, Lannoo L, Brison N, Gatinois V, Baetens M, Blaumeiser B, Boemer F, Bourlard L, Bours V, De Leener A, De Rademaeker M, Désir J, Dheedene A, Duquenne A, Fieremans N, Fieuw A, Gatot JS, Grisart B, Janssens K, Janssens S, Lederer D, Marichal A, Menten B, Meunier C, Palmeira L, Pichon B, Sammels E, Smits G, Sznajer Y, Vantroys E, Devriendt K, Vermeesch JR.
Van Den Bogaert K, et al. Among authors: vantroys e.
Genet Med. 2021 Jun;23(6):1137-1142. doi: 10.1038/s41436-021-01101-4. Epub 2021 Feb 9.
Genet Med. 2021.
PMID: 33564150
Free article.
Item in Clipboard
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
van Riel M, Brison N, Baetens M, Blaumeiser B, Boemer F, Bourlard L, Bulk S, De Leener A, Désir J, Devriendt K, Dheedene A, Duquenne A, Fieremans N, Fieuw A, Gatot JS, Grisart B, Janssens S, Khudashvili N, Lannoo L, Marichal A, Meunier C, Palmeira L, Parijs I, Pichon B, Roets E, Sammels E, Smits G, Suenaert M, Sznajer Y, Van den Bogaert K, Vancoillie L, Vandeputte L, Vantroys E, Vermeesch JR, Janssens K.
van Riel M, et al. Among authors: vantroys e.
Obstet Gynecol. 2021 Jun 1;137(6):1102-1108. doi: 10.1097/AOG.0000000000004385.
Obstet Gynecol. 2021.
PMID: 33957658
Free article.
Item in Clipboard
Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus.
Vanden Eynde N, Van den Mooter E, Vantroys E, De Schutter E, Leus A, Keymolen K, Dimitrov B, van Berkel K.
Vanden Eynde N, et al. Among authors: vantroys e.
Prenat Diagn. 2024 May;44(5):657-660. doi: 10.1002/pd.6546. Epub 2024 Mar 18.
Prenat Diagn. 2024.
PMID: 38498110
Item in Clipboard
Cite
Cite