[Severe pulmonary hypertension: initial manifestation of a new deficiency of the lipoic acid metabolism].

Lacasa Maseri, Andrea

[Severe pulmonary hypertension: initial manifestation of a new deficiency of the lipoic acid metabolism]. [electronic resource] - Medicina clinica Nov 2014 - 423-4 p. digital

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

1578-8989

10.1016/j.medcli.2013.12.014 doi


Biomarkers--metabolism
Carrier Proteins--genetics
Fatal Outcome
Genetic Markers
Humans
Hypertension, Pulmonary--etiology
Infant
Male
Mitochondrial Diseases--complications
Point Mutation
Thioctic Acid--deficiency