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Serena Gasperini

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Lorenzo Ferri; Serena Gasperini; Renzo Guerrini; Anna Caciotti; Marina Caserta; Catia Cavicchi; Guido Chibbaro; Maria Alice Donati; Rossella Parini; Elena Procopio; Miriam Rigoldi; Amelia Morrone
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.
M V Micheletti; Maria Alice Donati; Serena Gasperini; Giancarlo Lavoratti; Ivana Pela
Hemolytic uremic syndrome and rhabdomyolysis in a patient with succinate coenzyme Q reductase (complex II) deficiency.
Serena Gasperini; Stefano Stagi; Ugo Gasperini; Renzo Guerrini; Giancarlo la Marca; Maria Alice Donati
Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant.

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All Publications

2012: Lorenzo Ferri; Serena Gasperini; Renzo Guerrini; Anna Caciotti; Marina Caserta; Catia Cavicchi; Guido Chibbaro; Maria Alice Donati; Rossella Parini; Elena Procopio; Miriam Rigoldi; Amelia Morrone
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.
JIMD reports 2012;6():31-7.
2011: M V Micheletti; Maria Alice Donati; Serena Gasperini; Giancarlo Lavoratti; Ivana Pela
Hemolytic uremic syndrome and rhabdomyolysis in a patient with succinate coenzyme Q reductase (complex II) deficiency.
Clinical nephrology 2011;76(1):68-73.
2010: Serena Gasperini; Stefano Stagi; Ugo Gasperini; Renzo Guerrini; Giancarlo la Marca; Maria Alice Donati
Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant.
Pediatric nephrology (Berlin, Germany) 2010;25(11):2373-4.
2010: Stefano Stagi; Serena Gasperini; Cristina Manoni; Antonella Greco; Silvia Funghini; Alice Donati
Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain acylCoA dehydrogenase deficiency.
Hormone research in pædiatrics 2010;73(5):409-13.
2006: Ivana Pela; Serena Gasperini; Elisabetta Pasquini; Maria Alice Donati
Hyperkalemia after acute metabolic decompensation in two children with vitamin B12-unresponsive methylmalonic acidemia and normal renal function.
Clinical nephrology 2006;66(1):63-6.
2006: Sabrina Malvagia; Giancarlo la Marca; Bruno Casetta; Serena Gasperini; Elisabetta Pasquini; Maria Alice Donati; Enrico Zammarchi
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening.
Journal of mass spectrometry : JMS 2006;41(2):263-5.
2005: Giancarlo la Marca; Sabrina Malvagia; Elisabetta Pasquini; Maria Alice Donati; Serena Gasperini; Elena Procopio; Enrico Zammarchi
Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.
Rapid communications in mass spectrometry : RCM 2005;19(6):863-4.
2004: Luca Filippi; Alessandra Cecchi; Michele Tronchin; Carlo Dani; Marco Pezzati; Salvatore Seminara; Serena Gasperini; Enrico Zammarchi; Firmino Francesco Rubaltelli
Dopamine infusion and hypothyroxinaemia in very low birth weight preterm infants.
European journal of pediatrics 2004;163(1):7-13.
2002: Tiziana Bardelli; Maria Alice Donati; Serena Gasperini; Federica Ciani; F Belli; N Blau; Amelia Morrone; Enrico Zammarchi
Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia.
Molecular genetics and metabolism 2002;77(3):260-6.
2002: Silvia Funghini; Maria Alice Donati; Elisabetta Pasquini; Serena Gasperini; Federica Ciani; Amelia Morrone; Enrico Zammarchi
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.
Journal of inherited metabolic disease 2002;25(4):328-30.