Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.

Authors: Leone, Guido, Meli, Concetta, Falsaperla, Raffaele, Gullo, Federica, Licciardello, Laura, La Spina, Luisa, Messina, Marianna, Lo Bianco, Manuela, Sapuppo, Annamaria, Pappalardo, Maria Grazia, Iacobacci, Riccardo, Arena, Alessia, Vecchio, Michele, Ruggieri, Martino, Polizzi, Agata, Praticò, Andrea Domenico

Source: Nutrients; Feb2025, Vol. 17 Issue 4, p678, 16p

Genotype–Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.

Authors: Consentino, Maria Chiara, La Spina, Luisa, Meli, Concetta, Messina, Marianna, Lo Bianco, Manuela, Sapuppo, Annamaria, Pappalardo, Maria Grazia, Iacobacci, Riccardo, Arena, Alessia, Vecchio, Michele, Ruggieri, Martino, Polizzi, Agata, Praticò, Andrea Domenico

Source: Nutrients; Feb2025, Vol. 17 Issue 3, p379, 17p

Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios.

Authors: Messina, MariaAnna, Arena, Alessia, Iacobacci, Riccardo, La Spina, Luisa, Meli, Concetta, Raudino, Federica, Ruggieri, Martino

Source: Biomedicines; Dec2023, Vol. 11 Issue 12, p3247, 14p

Subject Terms: NEWBORN screening, RARE diseases, TANDEM mass spectrometry, CONGENITAL hypothyroidism, MEDICAL screening, FILTER paper

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Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review.

Authors: Falsaperla, Raffaele, Sciuto, Laura, La Spina, Luisa, Sciuto, Sarah, Praticò, Andrea D., Ruggieri, Martino

Source: Metabolic Brain Disease; Dec2021, Vol. 36 Issue 8, p2195-2203, 9p

Subject Terms: INBORN errors of metabolism, DIAGNOSIS, CENTRAL nervous system infections, CEREBRAL anoxia-ischemia, SEIZURES (Medicine)

A case of postvaricella cerebral angiopathy with a good outcome in a child.

Authors: Magagnini, Maria Cristina, La Spina, Luisa, Gioé, Daniela, Del Campo, G., Belfiore, G., Smilari, P., Greco, Filippo

Source: Journal of Pediatric Neurosciences; Apr-Jun2015, Vol. 10 Issue 2, p156-158, 3p

Subject Terms: CHICKENPOX, HEMIPLEGIA, MAGNETIC resonance imaging, TRANSIENT ischemic attack, TREATMENT effectiveness, CEREBRAL amyloid angiopathy, DISEASE complications

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