Kristoffer Haugarvoll Stefan Johansson Charalampos Tzoulis Bjørn Ivar Haukanes Cecilie Bredrup Gesche Neckelmann Helge Boman Per Morten Knappskog Laurence A Bindoff
10.1186/1750-1172-8-1
Orphanet J Rare Dis
2013 Jan 3;8:1.
CC BY
https://pubmed.ncbi.nlm.nih.gov/23286897/
Exome Magnetic Resonance Imaging / methods Metabolism, Inborn Errors / diagnosis Racemases and Epimerases / genetics
Exome Magnetic Resonance Imaging / methods Metabolism, Inborn Errors / diagnosis Racemases and Epimerases / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Age of Onset Female Genes, Recessive Humans Metabolism, Inborn Errors / enzymology Metabolism, Inborn Errors / genetics Middle Aged Siblings Young Adult Racemases and Epimerases alpha-methylacyl-CoA racemase
PMC3567975
23286897
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
2013