Daniela Ombrone

Lo screening neonatale per la leucodistrofia metacromatica: l'esempio toscano

Sabrina Malvagia, Alessandra Bettiol, Margherita Porcaro, Massimo MURA et autres

Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden

Sabrina Malvagia, Marta Daniotti, Rodolfo Tonin, Lorenzo Ferri et autres

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Over Ten Years of Newborn Screening for LSDs in Tuscany (Italy): Epidemiology, Novel Variants, and the Pseudodeficiency Burden

Sabrina Malvagia, Marta Daniotti, Rodolfo Tonin, Lorenzo Ferri et autres

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High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions

Federica Feo, Luciana Tramacere, Silvia Ramat, Alessandra Govoni et autres

BACKGROUND AND PURPOSE: Galactocerebrosidase (GALC) deficiency causes Krabbe disease, a severe lysosomal neurodegenerative condition. Emerging evidence suggests that heterozygous GALC variants may contribute to multiple sclerosis, attention-deficit hyperactivity disorder, and synucleinopathies. We aim to investigate the potential association between GALC heterozygous variants …

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Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program

Sabrina Malvagia, Alessandra Bettiol, Margherita Porcaro, Massimo Mura et autres

Metachromatic leukodystrophy (MLD) is a rare inherited disorder of lysosomal storage, caused by a deficiency in the arylsulfatase A (ARSA) enzyme, leading to toxic accumulation of sulfatides, which progressively impair motor and cognitive function. MLD is a candidate for inclusion in newborn …

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

Sabrina Malvagia, Silvia Funghini, Maria Della Bona, Daniela Ombrone et autres

Article The successful inclusion of ADA SCID in Tuscany expanded newborn screening program was published on September 1, 2021 in the journal Clinical Chemistry and Laboratory Medicine (CCLM) (volume 59, issue 10).

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Development of Strategies to Decrease False Positive Results in Newborn Screening

Sabrina Malvagia, G Forni, Daniela Ombrone, Giancarlo la Marca

The expansion of national newborn screening (NBS) programmes has provided significant benefits in the diagnosis and early treatment of several rare, heritable conditions, preventing adverse health outcomes for most affected infants. New technological developments have enabled the implementation of testing panel covering …

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Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening

S. Poggiali, Daniela Ombrone, G Forni, Sabrina Malvagia et autres

The isodecyl neopentanoate is an ingredient used in the cosmetic industry to prepare a nipple fissure balm. We report on 12 newborns that showed elevated C5-acylcarnitine levels upon newborn screening following treatment with balm. The first 3 neonates were immediately recalled for …

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Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening

Mt Sara Poggiali, Daniela Ombrone, G Forni, Sabrina Malvagia et autres

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

Giancarlo la Marca, Elisa Giocaliere, Sabrina Malvagia, Fabio Villanelli et autres

BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency has been recently introduced in the newborn screening program in Tuscany. In order to improve the PNP screening efficiency, we developed a 2nd tier test to quantify PNP primary markers deoxyguanosine (dGuo) and deoxyinosine (dIno). METHODS: …

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Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias

Sabrina Malvagia, Christopher A. Haynes, Laura Grisotto, Daniela Ombrone et autres

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Expanded newborn screening by mass spectrometry: New tests, future perspectives

Daniela Ombrone, Elisa Giocaliere, G Forni, Sabrina Malvagia et autres

Tandem mass spectrometry (MS/MS) has become a leading technology used in clinical chemistry and has shown to be particularly sensitive and specific when used in newborn screening (NBS) tests. The success of tandem mass spectrometry is due to important advances in hardware, …

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