Orazio Gabrielli - Publications

Quantification of keratan sulfate in biofluids by validated HPCE-LIF: application to Morquio syndrome.

Journal: Bioanalysis

Published: December 02, 2025

18-year follow-up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I.

Journal: American journal of medical genetics. Part A

Published: July 11, 2022

Glycosaminoglycan signatures in body fluids of mucopolysaccharidosis type II mouse model under long-term enzyme replacement therapy.

Journal: Journal of molecular medicine (Berlin, Germany)

Published: February 08, 2022

Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study.

Journal: Orphanet journal of rare diseases

Published: January 20, 2022

Human milk glycosaminoglycan composition from women of different countries: a pilot study.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: October 24, 2018

Composition and structure of glycosaminoglycans in DBS from 2-3-day-old newborns for the diagnosis of mucopolysaccharidosis.

Journal: Analytical biochemistry

Published: May 26, 2018

False positive screen test for mucopolysaccharidoses in healthy female newborns.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: April 11, 2018

Breast milk oligosaccharides: effects of 2'-fucosyllactose and 6'-sialyllactose on the adhesion of Escherichia coli and Salmonella fyris to Caco-2 cells.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: March 23, 2018

The effect of long-term treatment with coenzyme Q10 on nucleic acid modifications by oxidation in children with Down syndrome.

Journal: Neurobiology of aging

Published: November 16, 2017

Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: February 16, 2017

Total and single species of uronic acid-bearing glycosaminoglycans in urine of newborns of 2-3days of age for early diagnosis application.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: August 22, 2016

Importance of the combined urinary procedure for the diagnosis of Mucopolysaccharidoses.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: April 27, 2016