Chiara Cazzorla

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

Alberto Burlina, Giulia Polo, Leonardo Salviati et al. · Journal of Inherited Metabolic Disease · 2017 · 176 citations

Life Sciences, Biochemistry, Pediatrics +16

Living with phenylketonuria in adulthood: The PKU ATTITUDE study

Chiara Cazzorla, Giulia Bensi, Giacomo Biasucci et al. · Molecular Genetics and Metabolism Reports · 2018 · 108 citations · Full text

Agriculture, Nutrition, Nutritional Sciences +16

Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry

Torquil Watt, Alessandro P. Burlina, Chiara Cazzorla et al. · Genetics in Medicine · 2010 · 83 citations · Full text

Pharmacy, Pharmacotherapy, Palliative Medicine +3

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy

Alberto Burlina, Giulia Polo, Laura Rubert et al. · International Journal of Neonatal Screening · 2019 · 63 citations · Full text

Medicine, Child Health, Pediatrics +14

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi et al. · International Journal of Neonatal Screening · 2022 · 54 citations · Full text

Medicine, Biochemistry, Early Detection +16