المؤلفون: Luca Vedovelli, Paola Cogo, Elisa Cainelli, Agnese Suppiej, Massimo Padalino, Maria Tassini, Manuela Simonato, Giovanni Stellin, Virgilio P. Carnielli, Giuseppe Buonocore, Mariangela Longini

المصدر: Heliyon, Vol 5, Iss 10, Pp e02547- (2019)

مصطلحات موضوعية: Cardiology, Medicine, Neuroscience, Pediatrics, Physiology, Biological psychiatry, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844019362073Test; https://doaj.org/toc/2405-8440Test

الوصول الحر: https://doaj.org/article/fc299174cb0b4c6cade95861fdeec643Test

المؤلفون: 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

المصدر: PLoS Pathogens, Vol 10, Iss 3, p e1004026 (2014)

مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3961388?pdf=renderTest; https://doaj.org/toc/1553-7366Test; https://doaj.org/toc/1553-7374Test

الوصول الحر: https://doaj.org/article/21e737eb66174879853e696cc2071d0aTest

المؤلفون: Maria Luisa Tataranno, Serafina Perrone, Mariangela Longini, Caterina Coviello, Maria Tassini, Antonio Vivi, Marco Calderisi, Linda S. deVries, Floris Groenendaal, Giuseppe Buonocore, Manon J. N. L. Benders

المصدر: Disease Markers, Vol 2018 (2018)

مصطلحات موضوعية: Medicine (General), R5-920

العلاقة: http://dx.doi.org/10.1155/2018/4938194Test; https://doaj.org/toc/0278-0240Test; https://doaj.org/toc/1875-8630Test; https://doaj.org/article/ac0d726f788049e88ffabbef7e3b99c7Test

الإتاحة: https://doi.org/10.1155/2018/4938194Test
https://doaj.org/article/ac0d726f788049e88ffabbef7e3b99c7Test

المؤلفون: 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

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Pediatrics, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Reproduction & Development (AR&D)

المصدر: 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.2018.02.007Test

مصطلحات موضوعية: 0301 basic medicine, Male, Ornithine, medicine.medical_specialty, Movement disorders, Creatine therapy, Global developmental delay, Guanidinoacetate methyltransferase deficiency, Creatine, Cohort Studies, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Seizures, Internal medicine, medicine, Diet, Protein-Restricted, Humans, Language Development Disorders, Retrospective Studies, Movement Disorders, business.industry, Retrospective cohort study, General Medicine, medicine.disease, Seizure, Guanidinoacetate N-methyltransferase, 030104 developmental biology, Treatment Outcome, chemistry, Pediatrics, Perinatology and Child Health, Female, Guanidinoacetate N-Methyltransferase, Neurology (clinical), medicine.symptom, Arginine-restricted diet, business, 030217 neurology & neurosurgery, GAMT deficiency, Cohort study

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f01cafdcf14c1a438d510cd8b009e6Test
https://doi.org/10.1016/j.ejpn.2018.02.007Test

المؤلفون: Maria Antonietta Mencarelli, Maria Tassini, Marzia Pollazzon, Antonio Vivi, Marco Calderisi, Michele Falco, Marco Fichera, Lucia Monti, Sabrina Buoni, Francesca Mari, Udo Engelke, Ron A. Wevers, Joussef Hayek, Ra Renieri, Child Neuropsychiatry Azienda Ospedaliera Senese

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/3c/c7/Am_J_Med_Genet_A_2011_Oct_9_155(10)_2446-2452.tar.gz

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.349.1698Test

المؤلفون: Massimo A. Padalino, Elisa Cainelli, Paola Cogo, Maria Tassini, Manuela Simonato, Luca Vedovelli, Virgilio P. Carnielli, Agnese Suppiej, Mariangela Longini, Giovanni Stellin, Giuseppe Buonocore

المصدر: Heliyon
Heliyon, Vol 5, Iss 10, Pp e02547-(2019)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Multivariate analysis, Heart disease, Physiology, Biological psychiatry, Cardiology, Congenital heart diseases, Medicine, Metabolomics, Neuroscience, Pediatrics, Physiology, Cardiology, Socio-culturale, Hemodynamics, Urine, Pediatrics, Article, Congenital heart diseases, Biological psychiatry, 03 medical and health sciences, 0302 clinical medicine, Metabolomics, Internal medicine, medicine, lcsh:Social sciences (General), lcsh:Science (General), Multidisciplinary, business.industry, Medicine, Neuroscience, medicine.disease, Cardiac surgery, 030104 developmental biology, lcsh:H1-99, Observational study, business, Anaerobic exercise, 030217 neurology & neurosurgery, lcsh:Q1-390

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96b1123aba1f053ccb702daca38e7986Test
http://hdl.handle.net/11365/1083042Test

المؤلفون: Francesco Bazzini, Giuseppe Buonocore, Antonio Vivi, Marco Calderisi, Ilaria Zollino, Mariangela Longini, Maria Tassini, Carlotta Bracciali, Serafina Perrone

المصدر: Nutrition (Burbank, Los Angeles County, Calif.). 62

مصطلحات موضوعية: 0301 basic medicine, Adult, Magnetic Resonance Spectroscopy, Offspring, Endocrinology, Diabetes and Metabolism, Physiology, Mothers, Oligosaccharides, 030209 endocrinology & metabolism, Lactose, Breast milk, Human milk, Metabolomics, NMR spectroscopy, Nutrition, Preterm, Nutrition and Dietetics, 03 medical and health sciences, chemistry.chemical_compound, Endocrinology, fluids and secretions, 0302 clinical medicine, Metabolome, Medicine, Humans, Mature milk, Principal Component Analysis, 030109 nutrition & dietetics, Milk, Human, business.industry, Nutritional Support, Infant, Newborn, food and beverages, Gestational age, Infant, Diabetes and Metabolism, chemistry, Personalized nutrition, Infant Care, Female, business, Infant, Premature

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f712b576176de45075b12b0379fefc1cTest
https://pubmed.ncbi.nlm.nih.gov/30921551Test

المؤلفون: Maria Tassini, Giuseppe De Bernardo, Marco Calderisi, Serafina Perrone, Francesca Vanacore, Mariangela Longini, Giuseppe Buonocore, Elisa Laschi, Maurizio Giordano, Anna Laura Toni

المصدر: Medical Hypotheses. 137:109543

مصطلحات موضوعية: Urine samples, 0301 basic medicine, Magnetic Resonance Spectroscopy, Proton Magnetic Resonance Spectroscopy, Mothers, Physiology, Urine, Infant outcomes, 03 medical and health sciences, 0302 clinical medicine, Metabolomics, Pregnancy, Humans, Medicine, Mother, Newborn, Pregnant women, business.industry, Infant, Newborn, Maternal effect, General Medicine, Maternal metabolism, medicine.disease, 030104 developmental biology, Metabolome, Female, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83e32bfcab7e459b864a67a38d261c08Test
https://doi.org/10.1016/j.mehy.2019.109543Test

المؤلفون: 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

المصدر: NMR in Biomedicine. 23:353-358

مصطلحات موضوعية: medicine.medical_specialty, Pathology, business.industry, Brain dysfunction, Urinary system, Healthy subjects, Urine, Gastroenterology, Ethylmalonic acid, Excretion, Internal medicine, medicine, Molecular Medicine, Radiology, Nuclear Medicine and imaging, In patient, Young adult, business, Spectroscopy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::62a025852967ad39b8bc26616a1f5562Test
https://doi.org/10.1002/nbm.1468Test

المؤلفون: 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

المساهمون: Clinical chemistry, NCA - Childhood White Matter Diseases

المصدر: 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/10.1177/0883073809336120Test
Journal of Child Neurology, 25, 1, pp. 98-101

مصطلحات موضوعية: Male, Methyltransferase, Magnetic Resonance Spectroscopy, DNA Mutational Analysis, Urine, Neuroinformatics [DCN 3], Severe epilepsy, Mass Spectrometry, Genomic disorders and inherited multi-system disorders [IGMD 3], Diagnosis, Differential, Nuclear magnetic resonance, Seizures, Intellectual Disability, Humans, Child, Epilepsy, Movement Disorders, Chemistry, Brain, Nuclear magnetic resonance spectroscopy, Guanidinoacetate N-methyltransferase, Mutational analysis, Treatment Outcome, Biochemistry, Pediatrics, Perinatology and Child Health, Guanidinoacetate N-Methyltransferase, Neurology (clinical), Protons, Urine sample, Deficiency Diseases, Functional Neurogenomics [DCN 2], Two-dimensional nuclear magnetic resonance spectroscopy, Chromatography, Liquid

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62eb41ba56f36307724a93b37b0ce6b4Test
https://doi.org/10.1177/0883073809336120Test