Propranolol concentrations after oral administration in term and preterm neonates
Filippi, L, Cavallaro, G, Fiorini, P, Malvagia, S, Della Bona, M L, Giocaliere, E, Bagnoli, P, Dal Monte, M, Mosca, F, Donzelli, G, la Marca, G
Published in The journal of maternal-fetal & neonatal medicine (01.05.2013)
Published in The journal of maternal-fetal & neonatal medicine (01.05.2013)
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Journal Article
Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests
la Marca, G., Malvagia, S., Casetta, B., Pasquini, E., Donati, M. A., Zammarchi, E.
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Journal Article
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene
Ferri, L, Guido, C, la Marca, G, Malvagia, S, Cavicchi, C, Fiumara, A, Barone, R, Parini, R, Antuzzi, D, Feliciani, C, Zampetti, A, Manna, R, Giglio, S, Della Valle, CM, Wu, X, Valenzano, KJ, Benjamin, ER, Donati, MA, Guerrini, R, Genuardi, M, Morrone, A
Published in Clinical genetics (01.03.2012)
Published in Clinical genetics (01.03.2012)
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Journal Article
Children who develop type 1 diabetes early in life show low levels of carnitine and amino acids at birth: does this finding shed light on the etiopathogenesis of the disease?
la Marca, G, Malvagia, S, Toni, S, Piccini, B, Di Ciommo, V, Bottazzo, G F
Published in Nutrition & diabetes (01.10.2013)
Published in Nutrition & diabetes (01.10.2013)
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Journal Article
Hypocitrullinemia in expanded newborn screening by LC–MS/MS is not a reliable marker for ornithine transcarbamylase deficiency
Cavicchi, C., Malvagia, S., la Marca, G., Gasperini, S., Donati, M.A., Zammarchi, E., Guerrini, R., Morrone, A., Pasquini, E.
Published in Journal of pharmaceutical and biomedical analysis (12.07.2009)
Published in Journal of pharmaceutical and biomedical analysis (12.07.2009)
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Journal Article
Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias
Filippi, L., Gozzini, E., Cavicchi, C., Morrone, A., Fiorini, P., Donzelli, G., Malvagia, S., la Marca, G.
Published in Journal of inherited metabolic disease (01.12.2009)
Published in Journal of inherited metabolic disease (01.12.2009)
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Journal Article
Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS
la Marca, G., Malvagia, S., Casetta, B., Pasquini, E., Pela, I., Hirano, M., Donati, M. A., Zammarchi, E.
Published in Journal of mass spectrometry. (01.05.2006)
Published in Journal of mass spectrometry. (01.05.2006)
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Journal Article
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16
Malvagia, S., Papi, L., Morrone, A., Donati, M. A., Ciani, F., Pasquini, E., La Marca, G., Scholte, H. R., Genuardi, M., Zammarchi, E.
Published in Annals of human genetics (01.11.2007)
Published in Annals of human genetics (01.11.2007)
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Journal Article
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria
Cavicchi, C, Donati, MA, Funghini, S, La Marca, G, Malvagia, S, Ciani, F, Poggi, GM, Pasquini, E, Zammarchi, E, Morrone, A
Published in Clinical genetics (01.01.2006)
Published in Clinical genetics (01.01.2006)
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Journal Article
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots
la Marca, Giancarlo, PharmSc, Canessa, Clementina, MD, Giocaliere, Elisa, BSc, Romano, Francesca, BSc, Malvagia, Sabrina, BSc, Funghini, Silvia, PhD, Moriondo, Maria, BSc, Valleriani, Claudia, BSc, Lippi, Francesca, MD, Ombrone, Daniela, BSc, Della Bona, Maria Luisa, PharmSc, Speckmann, Carsten, MD, Borte, Stephan, MD, Brodszki, Nicholas, MD, Gennery, Andrew R., MD, Weinacht, Katja, Celmeli, Fatih, MD, Pagel, Julia, MD, de Martino, Maurizio, MD, Guerrini, Renzo, MD, Wittkowski, Helmut, MD, Santisteban, Ines, PhD, Bali, Pawan, PhD, Ikinciogullari, Aydan, MD, Hershfield, Michael, MD, Notarangelo, Luigi D., MD, Resti, Massimo, MD, Azzari, Chiara, MD
Published in Journal of allergy and clinical immunology (01.07.2014)
Published in Journal of allergy and clinical immunology (01.07.2014)
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Journal Article
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening
Malvagia, Sabrina, la Marca, Giancarlo, Casetta, Bruno, Gasperini, Serena, Pasquini, Elisabetta, Donati, Maria Alice, Zammarchi, Enrico
Published in Journal of mass spectrometry. (01.02.2006)
Published in Journal of mass spectrometry. (01.02.2006)
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Journal Article
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency
Morrone, A, Malvagia, S, Donati, M A, Funghini, S, Ciani, F, Pela, I, Boneh, A, Peters, H, Pasquini, E, Zammarchi, E
Published in American journal of medical genetics (22.07.2002)
Published in American journal of medical genetics (22.07.2002)
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Journal Article
BIOLOGY
Kim, J. H., Song, H. B., Kim, D. H., Park, K. D., Lee, B. J., Khatua, S., Kalkan, E., Brown, R., Pearlman, M., Vats, T., Abela, L., Fiaschetti, G., Shalaby, T., Grunder, E., Ma, M., Grahlert, J., Baumgartner, M., Siler, U., Nonoguchi, N., Ohgaki, H., Grotzer, M., Adachi, J.-i., Suzuki, T., Fukuoka, K., Yanagisawa, T., Mishima, K., Koga, T., Matsutani, M., Nishikawa, R., Sardi, I., Giunti, L., Bresci, C., Cardellicchio, S., Da Ros, M., Buccoliero, A. M., Farina, S., Arico, M., Genitori, L., Massimino, M., Filippi, L., Erdreich-Epstein, A., Zhou, H., Ren, X., Schur, M., Davidson, T. B., Ji, L., Sposto, R., Asgharzadeh, S., Tong, Y., White, E., Murugesan, M., Nimmervoll, B., Wang, M., Marino, D., Ellison, D., Finkelstein, D., Pounds, S., Malkin, D., Gilbertson, R., Eden, C., Ju, B., Phoenix, T., Poppleton, H., Lessman, C., Taylor, M., la Marca, G., Malvagia, S., Fratoni, V., Giovannini, M. G., Giangaspero, F., Badiali, M., Gleize, V., Paris, S., Moi, L., Elhouadani, S., Arcella, A., Morace, R., Antonelli, M., Buttarelli, F., Mokhtari, K., Sanson, M., Smith, S., Ward, J., Wilson, M., Rahman, C., Rose, F., Peet, A., Macarthur, D., Grundy, R., Rahman, R., Venkatraman, S., Birks, D., Balakrishnan, I., Alimova, I., Harris, P., Patel, P., Foreman, N., Vibhakar, R., Wu, H., Zhou, Q.
Published in Neuro-oncology (Charlottesville, Va.) (01.06.2012)
Published in Neuro-oncology (Charlottesville, Va.) (01.06.2012)
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Journal Article
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the β-galactosidase/neuraminidase complex and the EBP-receptor
Malvagia, Sabrina, Morrone, Amelia, Caciotti, Anna, Bardelli, Tiziana, d’Azzo, Alessandra, Ancora, Gina, Zammarchi, Enrico, Donati, Maria Alice
Published in Molecular genetics and metabolism (01.05.2004)
Published in Molecular genetics and metabolism (01.05.2004)
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Journal Article
The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient
MALVAGIA, Sabrina, POGGI, Giovanni Maria, PASQUINI, Elisabetta, DONATI, Maria Alice, PELA, Ivana, MORRONE, Amelia, ZAMMARCHI, Enrico
Published in Pediatric research (01.11.2003)
Published in Pediatric research (01.11.2003)
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Journal Article
Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry
la Marca, Giancarlo, Malvagia, Sabrina, Pasquini, Elisabetta, Donati, Maria Alice, Gasperini, Serena, Procopio, Elena, Zammarchi, Enrico
Published in Rapid communications in mass spectrometry (01.01.2005)
Published in Rapid communications in mass spectrometry (01.01.2005)
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Journal Article
Short Report: Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria
Cavicchi, C, Donati, MA, Funghini, S, la Marca, G, Malvagia, S, Ciani, F, Poggi, G M, Pasquini, E, Zammarchi, E, Morrone, A
Published in Clinical genetics (01.01.2006)
Published in Clinical genetics (01.01.2006)
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Journal Article
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency
Malvagia, Sabrina, Morrone, Amelia, Pasquini, Elisabetta, Funghini, Silvia, la Marca, Giancarlo, Zammarchi, Enrico, Donati, Maria Alice
Published in Prenatal diagnosis (01.12.2005)
Published in Prenatal diagnosis (01.12.2005)
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Journal Article
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry
Marca, Giancarlo la, Malvagia, Sabrina, Donati, Maria Alice, Morrone, Amelia, Pasquini, Elisabetta, Zammarchi, Enrico
Published in Rapid communications in mass spectrometry (01.01.2003)
Published in Rapid communications in mass spectrometry (01.01.2003)
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