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Plos One|April 29, 2016
C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and ManMalu-Clair van de Beek, Inge M E Dijkstra, Henk van Lenthe, et al.JIMD Reports|November 18, 2020
Neonatal carnitine concentrations in relation to gestational age and weightLoek L Crefcoeur, Monique G M de Sain-van der Velden, Sacha Ferdinandusse, et al.Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids|January 23, 2023
Alterations in ether lipid metabolism and the consequences for the mouse lipidomeKatharina Lackner, Sabrina Sailer, Jan-Bert van Klinken, et al.Frontiers in Neurology|August 10, 2023
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)Elise A Ferreira, Mark J N Buijs, Robin Wijngaard, et al.Hepatology (Baltimore, Md.)|May 29, 2014
Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotypeFrédéric M Vaz, Coen C Paulusma, Hidde Huidekoper, et al.Journal of Medical Genetics|September 17, 2017
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large familyBenjamin Roeben, Rebecca Schüle, Susanne Ruf, et al.Contemporary Clinical Trials Communications|December 25, 2023
Effectiveness of L-serine supplementation in children with a <i>GRIN2B</i> loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trialsBibiche den Hollander, Marieke Rothuizen-Lindenschot, Lisa Geertjens, et al.Contemporary Clinical Trials Communications|March 27, 2024
Corrigendum to "Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials" [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233]Bibiche den Hollander, Marieke Rothuizen-Lindenschot, Lisa Geertjens, et al.Inflammopharmacology|January 25, 2012
A novel antimicrobial lectin from Eugenia malaccensis that stimulates cutaneous healing in mice modelV P Brustein, F V Souza-Araújo, A F M Vaz, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|December 18, 2022
Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newbornsFrédéric M Vaz, Youssra Jamal, Rob Barto, et al.Pageof 55