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EMBO Molecular Medicine|January 16, 2010
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survivalKatharina Rauschenberger, Katja Schöler, Jörn Oliver Sass, et al.The New England Journal of Medicine|November 13, 2014
Monocarboxylate transporter 1 deficiency and ketone utilizationPeter M van Hasselt, Sacha Ferdinandusse, Glen R Monroe, et al.Brain : a Journal of Neurology|October 23, 2019
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegiaFrédéric M Vaz, John H McDermott, Mariëlle Alders, et al.Journal of Inherited Metabolic Disease|February 15, 2019
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomesJeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.American Journal of Human Genetics|January 31, 2017
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia SyndromeMachteld M Oud, Paul Tuijnenburg, Maja Hempel, et al.American Journal of Human Genetics|August 20, 2019
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related EncephalopathyClara D M van Karnebeek, Rúben J Ramos, Xiao-Yan Wen, et al.Proceedings of the National Academy of Sciences of the United States of America|May 9, 2012
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autismPatrícia B S Celestino-Soper, Sara Violante, Emily L Crawford, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2020
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.The New England Journal of Medicine|April 11, 2019
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in <i>GLS</i>André B P van Kuilenburg, Maja Tarailo-Graovac, Phillip A Richmond, et al.Brain : a Journal of Neurology|January 23, 2019
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insightsDevon L Johnstone, Hilal H Al-Shekaili, Maja Tarailo-Graovac, et al.Pageof 48