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Correction: Enteral and Parenteral Treatment with Caffeine for Preterm Infants in the Delivery Room: A Randomised Trial.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice.
- Published in:
- Nutrients, 2024, v. 16, n. 1, p. 13, doi. 10.3390/nu16010013
- By:
- Publication type:
- Article
Communicating a Positive Result at Newborn Screening and Parental Distress.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 38, doi. 10.3390/ijns9030038
- By:
- Publication type:
- Article
Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 15, doi. 10.3390/ijns9010015
- By:
- Publication type:
- Article
Enteral and Parenteral Treatment with Caffeine for Preterm Infants in the Delivery Room: A Randomised Trial.
- Published in:
- Pediatric Drugs, 2023, v. 25, n. 1, p. 79, doi. 10.1007/s40272-022-00541-y
- By:
- Publication type:
- Article
Towards Achieving Equity and Innovation in Newborn Screening across Europe.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 31, doi. 10.3390/ijns8020031
- By:
- Publication type:
- Article
Urinary Biomarkers as a Proxy for Congenital Central Hypoventilation Syndrome Patient Follow-Up.
- Published in:
- Antioxidants, 2022, v. 11, n. 5, p. 929, doi. 10.3390/antiox11050929
- By:
- Publication type:
- Article
Metabolite and thymocyte development defects in ADA-SCID mice receiving enzyme replacement therapy.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-02572-w
- By:
- Publication type:
- Article
Author Correction: Metabolite and thymocyte development defects in ADA-SCID mice receiving enzyme replacement therapy.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
A New Web Score to Predict Health Status in Paediatric Patients with Chronic Diseases: Design and Development of the PENSAMI Study.
- Published in:
- Children, 2021, v. 8, n. 12, p. 1, doi. 10.3390/children8121094
- By:
- Publication type:
- Article
Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 62, doi. 10.3390/ijns7040062
- By:
- Publication type:
- Article
Metabolite and thymocyte development defects in ADA-SCID mice receiving enzyme replacement therapy.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-02572-w
- By:
- Publication type:
- Article
The successful inclusion of ADA SCID in Tuscany expanded newborn screening program.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2021, v. 59, n. 9, p. 1516, doi. 10.1515/cclm-2021-0316
- By:
- Publication type:
- Article
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
- Published in:
- Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01117-2
- By:
- Publication type:
- Article
Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Effect of Beta 3 Adrenoreceptor Modulation on Patency of the Ductus Arteriosus.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 12, p. 2625, doi. 10.3390/cells9122625
- By:
- Publication type:
- Article
Incessant Automatic Atrial Tachycardia in a Neonate Successfully Treated with Nadolol and Closely Spaced Doses of Flecainide: A Case Report.
- Published in:
- Pediatric Reports, 2020, v. 12, n. 3, p. 108, doi. 10.3390/pediatric12030024
- By:
- Publication type:
- Article
Children with special health care needs attending emergency department in Italy: analysis of 3479 cases.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00937-x
- By:
- Publication type:
- Article
Point of view of the Italians pediatric scientific societies about the pediatric care during the COVID-19 lockdown: what has changed and future prospects for restarting.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00907-3
- By:
- Publication type:
- Article
Sweat chloride assay by inductively coupled plasma mass spectrometry: a confirmation test for cystic fibrosis diagnosis.
- Published in:
- Analytical & Bioanalytical Chemistry, 2020, v. 412, n. 25, p. 6909, doi. 10.1007/s00216-020-02821-3
- By:
- Publication type:
- Article
β3-Adrenoreceptor Blockade Reduces Hypoxic Myeloid Leukemic Cells Survival and Chemoresistance.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4210, doi. 10.3390/ijms21124210
- By:
- Publication type:
- Article
β<sub>3</sub> -Adrenoceptor as a potential immuno-suppressor agent in melanoma.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Oleuropein, the Main Polyphenol of Olea europaea Leaf Extract, Has an Anti-Cancer Effect on Human BRAF Melanoma Cells and Potentiates the Cytotoxicity of Current Chemotherapies.
- Published in:
- Nutrients, 2018, v. 10, n. 12, p. 1950, doi. 10.3390/nu10121950
- By:
- Publication type:
- Article
Serum creatinine during physiological perinatal dehydration may estimate individual nephron endowment.
- Published in:
- European Journal of Pediatrics, 2018, v. 177, n. 9, p. 1383, doi. 10.1007/s00431-018-3087-0
- By:
- Publication type:
- Article
Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.
- Published in:
- Journal of Cellular Physiology, 2018, v. 233, n. 8, p. 5829, doi. 10.1002/jcp.26365
- By:
- Publication type:
- Article
Serum creatinine during physiological perinatal dehydration may estimate individual nephron endowment.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 345, doi. 10.3390/ijms19020345
- By:
- Publication type:
- Article
Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients.
- Published in:
- Scientific Reports, 2017, p. 40136, doi. 10.1038/srep40136
- By:
- Publication type:
- Article
Serum Levels of Acyl-Carnitines along the Continuum from Normal to Alzheimer's Dementia.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0155694
- By:
- Publication type:
- Article
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.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 4, p. 627, doi. 10.1515/cclm-2015-0436
- By:
- Publication type:
- Article
EXPANDED NEWBORN SCREENING BY MASS SPECTROMETRY: NEW TESTS, FUTURE PERSPECTIVES.
- Published in:
- Mass Spectrometry Reviews, 2016, v. 35, n. 1, p. 71, doi. 10.1002/mas.21463
- By:
- Publication type:
- Article
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 11, p. 2004, doi. 10.1038/mt.2014.138
- By:
- Publication type:
- Article
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0105-9
- By:
- Publication type:
- Article
The pathophysiology of retinopathy of prematurity: an update of previous and recent knowledge.
- Published in:
- Acta Ophthalmologica (1755375X), 2014, v. 92, n. 1, p. 2, doi. 10.1111/aos.12049
- By:
- Publication type:
- Article
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
- Published in:
- 2014
- By:
- Publication type:
- journal article
A Pharmacokinetic Study and Correlation with Clinical Response of Rufinamide in Infants with Epileptic Encephalopathies.
- Published in:
- Pharmacology, 2013, v. 91, n. 5/6, p. 275, doi. 10.1159/000350392
- By:
- Publication type:
- Article
A TRPA1 antagonist reverts oxaliplatin-induced neuropathic pain.
- Published in:
- Scientific Reports, 2013, p. 1, doi. 10.1038/srep02005
- By:
- Publication type:
- Article
Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies.
- Published in:
- Scientific World Journal, 2013, p. 1, doi. 10.1155/2013/625824
- By:
- Publication type:
- Article
Safety and tolerability of antiepileptic drug treatment in children with epilepsy.
- Published in:
- 2012
- By:
- Publication type:
- journal article
The ‘headache tree’ via umbellulone and TRPA1 activates the trigeminovascular system.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 376, doi. 10.1093/brain/awr272
- By:
- Publication type:
- Article
Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI).
- Published in:
- BMC Pediatrics, 2012, v. 12, n. 1, p. 144, doi. 10.1186/1471-2431-12-144
- By:
- Publication type:
- Article
Odorant-Binding Proteins and Chemosensory Proteins in Pheromone Detection and Release in the Silkmoth Bombyx mori.
- Published in:
- Chemical Senses, 2011, v. 36, n. 4, p. 335, doi. 10.1093/chemse/bjq137
- By:
- Publication type:
- Article
Phenobarbital for neonatal seizures in hypoxic ischemic encephalopathy: A pharmacokinetic study during whole body hypothermia.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 4, p. 794, doi. 10.1111/j.1528-1167.2011.02978.x
- By:
- Publication type:
- Article
New developments in the treatment of hyperammonemia: emerging use of carglumic acid.
- Published in:
- International Journal of General Medicine, 2011, v. 4, p. 21, doi. 10.2147/IJGM.S10490
- By:
- Publication type:
- Article
Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant.
- Published in:
- 2010
- By:
- Publication type:
- Letter
High-performance liquid chromatography/electrospray ionization tandem mass spectrometric investigation of stilbenoids in cell cultures of Vitis vinifera L., cv. Malvasia.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2010, v. 24, n. 14, p. 2065, doi. 10.1002/rcm.4609
- By:
- Publication type:
- Article
Study protocol: safety and efficacy of propranolol in newborns with Retinopathy of Prematurity (PROP-ROP): ISRCTN18523491.
- Published in:
- BMC Pediatrics, 2010, v. 10, p. 83, doi. 10.1186/1471-2431-10-83
- By:
- Publication type:
- Article
The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2009, v. 23, n. 23, p. 3891, doi. 10.1002/rcm.4289
- By:
- Publication type:
- Article
A new rapid micromethod for the assay of phenobarbital from dried blood spots by LC-tandem mass spectrometry.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, n. 12, p. 2658, doi. 10.1111/j.1528-1167.2009.02204.x
- By:
- Publication type:
- Article