Maria L. Bona-Della

Florence, 50139, Italy

Last Updated: 09/26/2026

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Found 23 publications

Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry.

Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: November 18, 2024

Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spectrometry: set up of first and second tier tests.

Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spectrometry: set up of first and second tier tests.

Journal: Clinical chemistry and laboratory medicine

Published: October 22, 2024

GBA genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany region.

GBA genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany region.

Journal: Clinical parkinsonism & related disorders

Published: September 13, 2024

Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.

Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.

Journal: Clinical chemistry and laboratory medicine

Published: March 16, 2021

The successful inclusion of ADA SCID in Tuscany expanded newborn screening program.

The successful inclusion of ADA SCID in Tuscany expanded newborn screening program.

Journal: Clinical chemistry and laboratory medicine

Published: March 13, 2021

LC-MS/MS method for simultaneous quantification of heparan sulfate and dermatan sulfate in urine by butanolysis derivatization.

LC-MS/MS method for simultaneous quantification of heparan sulfate and dermatan sulfate in urine by butanolysis derivatization.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: July 27, 2018

Haematohidrosis treated with propranolol: a case report.

Haematohidrosis treated with propranolol: a case report.

Journal: Archives of disease in childhood

Published: January 18, 2018

Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI): a feasibility study.

Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI): a feasibility 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: March 10, 2017

Propranolol 0.1% eye micro-drops in newborns with retinopathy of prematurity: a pilot clinical trial.

Propranolol 0.1% eye micro-drops in newborns with retinopathy of prematurity: a pilot clinical trial.

Journal: Pediatric research

Published: April 27, 2016

Successful Propranolol Treatment of a Kaposiform Hemangioendothelioma Apparently Resistant to Propranolol.

Successful Propranolol Treatment of a Kaposiform Hemangioendothelioma Apparently Resistant to Propranolol.

Journal: Pediatric blood & cancer

Published: January 10, 2016

Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry.

Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry.

Journal: Clinical chemistry and laboratory medicine

Published: May 08, 2015

Therapeutic drug monitoring of carbamazepine and its metabolite in children from dried blood spots using liquid chromatography and tandem mass spectrometry.

Therapeutic drug monitoring of carbamazepine and its metabolite in children from dried blood spots using liquid chromatography and tandem mass spectrometry.

Journal: Journal of pharmaceutical and biomedical analysis

Published: November 19, 2014

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Last Updated: 09/26/2026