Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Maria, Tassini"'
Autor:
Luca Vedovelli, Paola Cogo, Elisa Cainelli, Agnese Suppiej, Massimo Padalino, Maria Tassini, Manuela Simonato, Giovanni Stellin, Virgilio P. Carnielli, Giuseppe Buonocore, Mariangela Longini
Publikováno v:
Heliyon, Vol 5, Iss 10, Pp e02547- (2019)
Background: From fetal life until cardiac surgery, complex congenital heart diseases (CHD) exhibit different hemodynamic and oxygenation patterns that can lead to alteration of the metabolic profile. We used a metabolomic approach to identify urine m
Externí odkaz:
https://doaj.org/article/fc299174cb0b4c6cade95861fdeec643
Autor:
Alice Gerlini, Leonarda Colomba, Leonardo Furi, Tiziana Braccini, Ana Sousa Manso, Andrea Pammolli, Bo Wang, Antonio Vivi, Maria Tassini, Nico van Rooijen, Gianni Pozzi, Susanna Ricci, Peter W Andrew, Uwe Koedel, E Richard Moxon, Marco R Oggioni
Publikováno v:
PLoS Pathogens, Vol 10, Iss 3, p e1004026 (2014)
The pathogenesis of bacteraemia after challenge with one million pneumococci of three isogenic variants was investigated. Sequential analyses of blood samples indicated that most episodes of bacteraemia were monoclonal events providing compelling evi
Externí odkaz:
https://doaj.org/article/21e737eb66174879853e696cc2071d0a
Autor:
Alicia Chan, Gaele Pitelet, Sarah Sidky, Dwight D. Koeberl, Thierry Billette de Villemeur, K. Mention, Floris C. Hofstede, Declan O'Rourke, Laurence Lion-François, Gajja S. Salomons, Diana Ballhausen, Jose E. Abdenur, Marie-Line Jacquemont, Maria Tassini, David Cheillan, Nathalie Dorison, Miquel Raspall-Chaure, Monique Williams, Jennifer L. Goldstein, Alice Goldenberg, Arnaud Anastasi, Sabrina Buoni, Saadet Mercimek-Andrews, Helen Mundy, Allan M. Lund, Yannay Khaikin
Publikováno v:
European journal of paediatric neurology : EJPN, 22(3), 369-379. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 22(3), 369. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 22(3), 369-379. W.B. Saunders
European Journal of Paediatric Neurology, 22(3), 369-379. W.B. Saunders Ltd
Khaikin, Y, Sidky, S, Abdenur, J, Anastasi, A, Ballhausen, D, Buoni, S, Chan, A, Cheillan, D, Dorison, N, Goldenberg, A, Goldstein, J, Hofstede, F C, Jacquemont, M-L, Koeberl, D D, Lion-Francois, L, Lund, A M, Mention, K, Mundy, H, O'Rourke, D, Pitelet, G, Raspall-Chaure, M, Tassini, M, Billette de Villemeur, T, Williams, M, Salomons, G S & Mercimek-Andrews, S 2018, ' Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study ', European Journal of Paediatric Neurology, vol. 22, no. 3, pp. 369-379 . https://doi.org/10.1016/j.ejpn.2018.02.007
European Journal of Paediatric Neurology, 22(3), 369. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 22(3), 369-379. W.B. Saunders
European Journal of Paediatric Neurology, 22(3), 369-379. W.B. Saunders Ltd
Khaikin, Y, Sidky, S, Abdenur, J, Anastasi, A, Ballhausen, D, Buoni, S, Chan, A, Cheillan, D, Dorison, N, Goldenberg, A, Goldstein, J, Hofstede, F C, Jacquemont, M-L, Koeberl, D D, Lion-Francois, L, Lund, A M, Mention, K, Mundy, H, O'Rourke, D, Pitelet, G, Raspall-Chaure, M, Tassini, M, Billette de Villemeur, T, Williams, M, Salomons, G S & Mercimek-Andrews, S 2018, ' Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study ', European Journal of Paediatric Neurology, vol. 22, no. 3, pp. 369-379 . https://doi.org/10.1016/j.ejpn.2018.02.007
Purpose Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorde
Autor:
Massimo A. Padalino, Elisa Cainelli, Paola Cogo, Maria Tassini, Manuela Simonato, Luca Vedovelli, Virgilio P. Carnielli, Agnese Suppiej, Mariangela Longini, Giovanni Stellin, Giuseppe Buonocore
Publikováno v:
Heliyon
Heliyon, Vol 5, Iss 10, Pp e02547-(2019)
Heliyon, Vol 5, Iss 10, Pp e02547-(2019)
Background From fetal life until cardiac surgery, complex congenital heart diseases (CHD) exhibit different hemodynamic and oxygenation patterns that can lead to alteration of the metabolic profile. We used a metabolomic approach to identify urine me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96b1123aba1f053ccb702daca38e7986
http://hdl.handle.net/11365/1083042
http://hdl.handle.net/11365/1083042
Autor:
Maria Tassini, Giuseppe De Bernardo, Marco Calderisi, Serafina Perrone, Francesca Vanacore, Mariangela Longini, Giuseppe Buonocore, Elisa Laschi, Maurizio Giordano, Anna Laura Toni
Publikováno v:
Medical Hypotheses. 137:109543
Background Pregnancy is characterized by multiple metabolic processes to allow proper foetal development and ensure adequate stores. Little is known about the interactions between maternal and foetal metabolism during the last phase of pregnancy. Met
Autor:
Francesco Bazzini, Giuseppe Buonocore, Antonio Vivi, Marco Calderisi, Ilaria Zollino, Mariangela Longini, Maria Tassini, Carlotta Bracciali, Serafina Perrone
Publikováno v:
Nutrition (Burbank, Los Angeles County, Calif.). 62
Objectives The composition of milk from mothers delivering prematurely differs from that of full-term mature milk and changes over time. The aim of this study is to test the hypothesis that changes in milk metabolomic profile from mothers delivering
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Autor:
Maria Tassini, Linda S. deVries, Maria Luisa Tataranno, Caterina Coviello, Floris Groenendaal, Marco Calderisi, Mariangela Longini, Manon J.N.L. Benders, Antonio Vivi, Serafina Perrone, Giuseppe Buonocore
Publikováno v:
Disease markers, 2018. IOS Press
Disease Markers, Vol 2018 (2018)
Disease Markers
Disease Markers, Vol 2018 (2018)
Disease Markers
Background and Objective. Early identification of neonates at risk for brain injury is important to start appropriate intervention. Urinary metabolomics is a source of potential, noninvasive biomarkers of brain disease. We studied the urinary metabol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95d8f159098b43fa02a82e1bc8f6420a
https://dspace.library.uu.nl/handle/1874/373546
https://dspace.library.uu.nl/handle/1874/373546
Autor:
Raffaella Zannolli, Francesco Chiarelli, Marco Liberati, Maria Concetta Varetti, Anna De Nicola, Francesco Ferrara, Alessandra Orsi, Silvia Funghini, Claudio De Felice, Sabrina Buoni, Maria Tassini, Mirella Strambi, Mario Messina, J. Hayek, Ron A. Wevers, Angelika Mohn, Cosimo Giannini, Gianni Betti, Antonio Vivi
Publikováno v:
NMR in Biomedicine. 23:353-358
Our aim was to compare urinary ethylmalonic acid (EMA) levels in subjects who had no apparent clinical reason to have increased levels of this substance but were suffering from non-specific CNS impairment, and healthy controls. Urinary EMA concentrat
Autor:
Raffaella Zannolli, Antonio Vivi, Anna De Nicola, Eva Morava, Udo F. H. Engelke, Ron A. Wevers, Sabrina Buoni, J. Hayek, Maria Tassini, Lucia Monti, Mirella Strambi, Gajja S. Salomons, Gianni Valensin
Publikováno v:
Journal of Child Neurology, 25, 98-101
Journal of Child Neurology, 25(1), 98-101. SAGE Publications Inc.
Tassini, M, Zannolli, R, Buoni, S, Engelke, U, Vivi, A, Valensin, G, Salomons, G S, De Nicola, A, Strambi, M, Monti, L, Morava, E, Wevers, R A & Hayek, J 2010, ' [H-1] Magnetic Resonance Spectroscopy of Urine: Diagnosis of a Guanidinoacetate Methyl Transferase Deficiency Case ', Journal of Child Neurology, vol. 25, no. 1, pp. 98-101 . https://doi.org/10.1177/0883073809336120
Journal of Child Neurology, 25, 1, pp. 98-101
Journal of Child Neurology, 25(1), 98-101. SAGE Publications Inc.
Tassini, M, Zannolli, R, Buoni, S, Engelke, U, Vivi, A, Valensin, G, Salomons, G S, De Nicola, A, Strambi, M, Monti, L, Morava, E, Wevers, R A & Hayek, J 2010, ' [H-1] Magnetic Resonance Spectroscopy of Urine: Diagnosis of a Guanidinoacetate Methyl Transferase Deficiency Case ', Journal of Child Neurology, vol. 25, no. 1, pp. 98-101 . https://doi.org/10.1177/0883073809336120
Journal of Child Neurology, 25, 1, pp. 98-101
For the first time, the use of urine [1H] magnetic resonance spectroscopy has allowed the detection of 1 case of guanidinoacetate methyl transferase in a database sample of 1500 pediatric patients with a diagnosis of central nervous system impairment