Associated Papers
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
D'Gama AM et al.
American Journal of Medical Genetics. Part A, 2020
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.
Schottmann G et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
Select a paper to view details