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
6 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.
J Inherit Metab Dis. 2022 May;45(3):386-405. doi: 10.1002/jimd.12475. Epub 2022 Feb 3.
J Inherit Metab Dis. 2022.
PMID: 34997761
Free PMC article.
Review.
Neonatal carnitine concentrations in relation to gestational age and weight.
Crefcoeur LL, de Sain-van der Velden MGM, Ferdinandusse S, Langeveld M, Maase R, Vaz FM, Visser G, Wanders RJA, Wijburg FA, Verschoof-Puite RK, Schielen PCJI.
Crefcoeur LL, et al.
JIMD Rep. 2020 Sep 8;56(1):95-104. doi: 10.1002/jmd2.12162. eCollection 2020 Nov.
JIMD Rep. 2020.
PMID: 33204600
Free PMC article.
Item in Clipboard
Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer.
Knottnerus SJG, van Harskamp D, Schierbeek H, Bleeker JC, Crefcoeur LL, Ferdinandusse S, van Goudoever JB, Houtkooper RH, IJlst L, Langeveld M, Wanders RJA, Vaz FM, Wijburg FA, Visser G.
Knottnerus SJG, et al. Among authors: crefcoeur ll.
Clin Nutr. 2021 Mar;40(3):1396-1404. doi: 10.1016/j.clnu.2020.08.032. Epub 2020 Sep 4.
Clin Nutr. 2021.
PMID: 32948349
Item in Clipboard
A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.
van den Heuvel LM, Kater-Kuipers A, van Dijk T, Crefcoeur LL, Visser G, Langeveld M, Henneman L.
van den Heuvel LM, et al. Among authors: crefcoeur ll.
Orphanet J Rare Dis. 2023 Jun 2;18(1):134. doi: 10.1186/s13023-023-02735-0.
Orphanet J Rare Dis. 2023.
PMID: 37268964
Free PMC article.
Item in Clipboard
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns.
Crefcoeur LL, Heiner-Fokkema MR, Maase RE, Visser G, de Sain-van der Velden MGM.
Crefcoeur LL, et al.
JIMD Rep. 2022 Sep 16;64(1):57-64. doi: 10.1002/jmd2.12334. eCollection 2023 Jan.
JIMD Rep. 2022.
PMID: 36636597
Free PMC article.
Item in Clipboard
Primary carnitine deficiency is a life-long disease.
Crefcoeur LL, Melles MC, Bruning TA, Pereira RR, Langendonk JG.
Crefcoeur LL, et al.
JIMD Rep. 2022 Jul 27;63(6):524-528. doi: 10.1002/jmd2.12319. eCollection 2022 Nov.
JIMD Rep. 2022.
PMID: 36341172
Free PMC article.
Item in Clipboard
Cite
Cite