Serena Catarzi
Florence, Italy
Last Updated: 09/26/2026
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Found 20 publications
Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.
Journal: Acta bio-medica : Atenei Parmensis
Published: January 15, 2023
Incidence and risk factors of bacterial sepsis and invasive fungal infection in neonates and infants requiring major surgery: an Italian multicentre prospective study.
Journal: The Journal of hospital infection
Published: July 27, 2022
Safety use of high frequency oscillatory ventilation in transport of newborn infants affected by severe respiratory failure: preliminary data in central Tuscany.
Journal: BMC pediatrics
Published: August 23, 2021
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
Journal: Molecular genetics and metabolism
Published: July 19, 2019
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.
Journal: Journal of neurology
Published: July 16, 2018
Neuroprotective effects of topiramate and memantine in combination with hypothermia in hypoxic-ischemic brain injury in vitro and in vivo.
Journal: Neuroscience letters
Published: September 05, 2017
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
Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease.
Journal: Chembiochem : a European journal of chemical biology
Published: June 10, 2015
Alpha Glucosidase Assay on Dried Blood Spot in the Early Diagnosis of Infantile Pompe Disease.
Journal: Journal of neuromuscular diseases
Published: January 01, 2015
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
Journal: Journal of medical genetics
Published: December 17, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Journal: Human mutation
Published: September 15, 2014
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
Journal: Orphanet journal of rare diseases
Published: April 01, 2014
Last Updated: 09/26/2026