Phenotypic spectrum of FARS2-deficiency
Mol Genet Metab Rep
.
2017 Dec 21:14:41-42.
doi: 10.1016/j.ymgmr.2017.11.003.
eCollection 2018 Mar.
Authors
Josef Finsterer
1
,
Carla A Scorza
2
,
Fulvio A Scorza
2
Affiliations
1
Krankenanstalt Rudolfstiftung, Vienna, Austria.
2
Disciplina de Neurociência, Escola Paulista de Medicina, Universidade Federal de São Paulo EPM/UNIFESP. São Paulo, Brazil.
PMID:
29326872
PMCID:
PMC5758838
DOI:
10.1016/j.ymgmr.2017.11.003
No abstract available
Keywords:
Encephalopathy; FARS2; Genotype; Lactic acidosis; Mitochondrial; Phenotype.