Ivo Barić

TL;DR: Exome sequencing enhances the ability to identify potential nuclear gene mutations in patients with biochemically defined defects affecting multiple mitochondrial respiratory chain complexes.

TL;DR: This study contributes to the determination of genetic heterogeneity of arOP and allows further delineation of the other genetic defects causing this severe condition.

TL;DR: Sbelipase alfa therapy resulted in a reduction in multiple disease-related hepatic and lipid abnormalities in children and adults with lysosomal acid lipase deficiency and observed improvements in lipid levels and reduction in hepatic fat content.

TL;DR: Researchers report studies of a Croatian boy, a proven case of human S-adenosylhomocysteine (AdoHcy) hydrolase deficiency, who had marked hypotonia with elevated serum creatine kinase and transaminases, prolonged prothrombin time and low albumin, and found no evidence of a soluble inhibitor of the enzyme in extracts of the patient's cultured fibroblasts.

TL;DR: For patients with MMA, propionic aciduria (PA) and OTC deficiency (male and female), hyperammonemia was more severe in metabolic crises during than after the newborn period, whereas metabolic acidosis tended to be moresevere in MMA and PA patients with late onset of symptoms.