Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.

Hao YangWalla Al-HertaniDenis CyrRachel LaframboiseGuy ParizeaultShu Pei WangFrancis RossignolMarie-Thérèse BerthierYves GiguèrePaula J WatersGrant A Mitchellnull null

Published in: Journal of medical genetics (2016)

MHSA can be caused by sequence variants in GSTZ1. Such individuals have thus far remained asymptomatic despite receiving no specific treatment.

Keyphrases

copy number
replacement therapy
gene expression
combination therapy
genome wide