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Items: 3

Select item 26973831.

Mitochondrial 2,4-dienoyl-CoA Reductase Deficiency in Mice Results in Severe Hypoglycemia with Stress Intolerance and Unimpaired Ketogenesis

Ilkka J. Miinalainen, Werner Schmitz, Anne Huotari, Kaija J. Autio, Raija Soininen, Emiel Ver Loren van Themaat, Myriam Baes, Karl-Heinz Herzig, Ernst Conzelmann, J. Kalervo Hiltunen

PLoS Genet. 2009 Jul; 5(7): e1000543. Published online 2009 Jul 3. doi: 10.1371/journal.pgen.1000543

PMCID:: PMC2697383

Abstract Article PDF–918K

Select item 67001562.

Mitochondrial 2,4-dienoyl-CoA reductase (Decr) deficiency and impairment of thermogenesis in mouse brown adipose tissue

Anne M. Mäkelä, Esa Hohtola, Ilkka J. Miinalainen, Joonas A. Autio, Werner Schmitz, Kalle J. Niemi, J. Kalervo Hiltunen, Kaija J. Autio

Sci Rep. 2019; 9: 12038. Published online 2019 Aug 19. doi: 10.1038/s41598-019-48562-x

PMCID:: PMC6700156

Abstract Article PDF–4.6M

Select item 61857363.

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant

Daniel J. Pomerantz, Sacha Ferdinandusse, Joy Cogan, David N. Cooper, Tyler Reimschisel, Amy Robertson, Anna Bican, Tracy McGregor, Jackie Gauthier, David S. Millington, Jaime L. W. Andrae, Michael R. Tschannen, Daniel C. Helbling, Wendy M. Demos, Simone Denis, Ronald J. A. Wanders, John N. Newman, Rizwan Hamid, John A. Phillips, III, UDN

Am J Med Genet A. Author manuscript; available in PMC 2018 Oct 12.

Published in final edited form as: Am J Med Genet A. 2018 Mar; 176(3): 692–698. Published online 2018 Feb 1. doi: 10.1002/ajmg.a.38602