Biomedical subjects

Giancarlo La Marca

Publications and source records attributed to Giancarlo La Marca.

3 recordsLinked to original sources

PubMed2006

Barth syndrome presenting with acute metabolic decompensation in the neonatal period.

We describe two patients affected by Barth syndrome. Their symptoms became manifest on respectively the third and first day of their lives. Clinical presentation included poor sucking, lethargy, hypotonia, hypothermia and cardiomyopathy. Laboratory findings such as hypoglycaemia, metabolic acidosis, elevated transaminases, hyperlactacidaemia and mild hyperammonaemia pointed to an inborn error of energy metabolism with possible mitochondrial involvement. Molecular analysis of the TAZ (G4.5) gene showed the c.877G > A mutation leading to the G197R amino acid substitution in patient 1, and the new splice donor c.829 + 1G > A genetic lesion in patient 2.

Acute Disease↗

PubMed2006

Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening.

Explore the source record for details and available documents.

Artifacts↗

PubMed2005

Solid olive residues: insight into their phenolic composition.

Solid olive residues (SOR) are byproducts of the olive-milling process, but they have an increasing importance in the pharmaceutical industry due to their rich content of biophenols. Such compounds are studied widely for their antioxidant and antimicrobial activities, but there is a lack of information about their quantitative recovery. This research highlighted the key role played both by the selection of the cultivar and by the degree of olive fruit ripening on the phenolic content on the SOR. The extraction methods were selected to reach the best quantitative results mainly using a safe food solvent. In light of the results the Soxhlet extraction with ethanol could be proposed as preferential for a higher recovery of verbascoside and its analogues.

Chromatography, High Pressure Liquid↗