المؤلفون: Poggiali, Sara, Ombrone, Daniela, Forni, Giulia, Malvagia, Sabrina, Funghini, Silvia, Mura, Massimo, Pasquini, Elisabetta, Santoro, Laura, Bellavia, Vincenzo, Granata, Orazia Maria, Castana, Cinzia, McGreevy, Kathleen S., Aronica, Tommaso Silvano, Marca, Giancarlo la

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2016 4

مصطلحات موضوعية: newborn screening, tandem mass spectrometry, false positive, pivalic acid, second-tier test

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100311Test

المؤلفون: Rossi, Alessandro, Malvagia, Sabrina, la Marca, Giancarlo, Parenti, Giancarlo, Brunetti-Pierri, Nicola

المساهمون: Rossi, Alessandro, Malvagia, Sabrina, la Marca, Giancarlo, Parenti, Giancarlo, Brunetti-Pierri, Nicola

مصطلحات موضوعية: biomarker, gene therapy, lysosomal storage disorders

العلاقة: journal:MOLECULAR THERAPY; https://hdl.handle.net/11588/964217Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85196378639

الإتاحة: https://doi.org/10.1016/j.ymthe.2024.06.003Test
https://hdl.handle.net/11588/964217Test

المؤلفون: Ruoppolo, Margherita, Malvagia, Sabrina, Boenzi, Sara, Carducci, Carla, Dionisi-Vici, Carlo, Teofoli, Francesca, Burlina, Alberto, Angeloni, Antonio, Aronica, Tommaso, Bordugo, Andrea, Bucci, Ines, Camilot, Marta, Carbone, Maria Teresa, Cardinali, Roberta, Carducci, Claudia, Cassanello, Michela, Castana, Cinzia, Cazzorla, Chiara, Ciatti, Renzo, Ferrari, Simona, Frisso, Giulia, Funghini, Silvia, Furlan, Francesca, Gasperini, Serena, Gragnaniello, Vincenza, Guzzetti, Chiara, La Marca, Giancarlo, La Spina, Luisa, Lorè, Tania, Meli, Concetta, Messina, MariaAnna, Morrone, Amelia, Nardecchia, Francesca, Ortolano, Rita, Parenti, Giancarlo, Pavanello, Enza, Pieragostino, Damiana, Pillai, Sara, Porta, Francesco, Righetti, Francesca, Rossi, Claudia, Rovelli, Valentina, Salina, Alessandro, Santoro, Laura, Sauro, Pina, Schiaffino, Maria Cristina, Simonetti, Simonetta, Vincenzi, Monica, Tarsi, Elisabetta, Uccheddu, Anna Paola

المساهمون: Ruoppolo, Margherita, Malvagia, Sabrina, Boenzi, Sara, Carducci, Carla, Dionisi-Vici, Carlo, Teofoli, Francesca, Burlina, Alberto, Angeloni, Antonio, Aronica, Tommaso, Bordugo, Andrea, Bucci, Ine, Camilot, Marta, Carbone, Maria Teresa, Cardinali, Roberta, Carducci, Claudia, Cassanello, Michela, Castana, Cinzia, Cazzorla, Chiara, Ciatti, Renzo, Ferrari, Simona, Frisso, Giulia, Funghini, Silvia, Furlan, Francesca, Gasperini, Serena, Gragnaniello, Vincenza, Guzzetti, Chiara, La Marca, Giancarlo, La Spina, Luisa, Lorè, Tania, Meli, Concetta, Messina, Mariaanna, Morrone, Amelia, Nardecchia, Francesca, Ortolano, Rita, Parenti, Giancarlo, Pavanello, Enza, Pieragostino, Damiana, Pillai, Sara, Porta, Francesco, Righetti, Francesca, Rossi, Claudia, Rovelli, Valentina, Salina, Alessandro, Santoro, Laura, Sauro, Pina, Schiaffino, Maria Cristina, Simonetti, Simonetta, Vincenzi, Monica, Tarsi, Elisabetta, Uccheddu, Anna Paola

مصطلحات موضوعية: aminoacidemia, fatty acid oxidation disorder, inborn errors of metabolism, newborn screening, organic acidemia, tandem mass spectrometry, urea cycle defects

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35997437; info:eu-repo/semantics/altIdentifier/wos/WOS:000857740800001; volume:8; issue:3; firstpage:47; journal:INTERNATIONAL JOURNAL OF NEONATAL SCREENING; http://hdl.handle.net/11573/1653346Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85138652591

الإتاحة: https://doi.org/10.3390/ijns8030047Test
http://hdl.handle.net/11573/1653346Test

المؤلفون: Ricci, Silvia, Guarnieri, Valentina, Capitanini, Francesca, Pelosi, Caterina, Astorino, Valeria, Boscia, Silvia, Calistri, Elisa, Canessa, Clementina, Cortimiglia, Martina, Lippi, Francesca, Lodi, Lorenzo, Malvagia, Sabrina, Moriondo, Maria, La Marca, Giancarlo, Azzari, Chiara

المصدر: The Journal of Allergy and Clinical Immunology: In Practice ; ISSN 2213-2198

مصطلحات موضوعية: Immunology and Allergy

الإتاحة: https://doi.org/10.1016/j.jaip.2024.04.011Test
https://api.elsevier.com/content/article/PII:S2213219824003957?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2213219824003957?httpAccept=text/plainTest

المؤلفون: Cavicchi, Catia, Oussalah, Abderrahim, Falliano, Silvia, Ferri, Lorenzo, Gozzini, Alessia, Gasperini, Serena, Motta, Serena, Rigoldi, Miriam, Parenti, Giancarlo, Tummolo, Albina, Meli, Concetta, Menni, Francesca, Furlan, Francesca, Daniotti, Marta, Malvagia, Sabrina, La Marca, Giancarlo, Chery, Céline, Morange, Pierre-Emmanuel, Tregouet, David, Donati, Maria, Alice, Guerrini, Renzo, Guéant, Jean-Louis, Morrone, Amelia

المساهمون: Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Naples Federico II = Università degli studi di Napoli Federico II, Azienda Ospedaliero-Universitaria Policlinico “Gaspare Rodolico”, Fondazione IRCCS Istituto Nazionale Tumori - National Cancer Institute Milan, Meyer Children's Hospital Florence, Italie, Università degli Studi di Firenze = University of Florence = Université de Florence (UniFI), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: ISSN: 1868-7083 ; Clinical Epigenetics ; https://hal.sorbonne-universite.fr/hal-03278520Test ; Clinical Epigenetics, 2021, 13 (1), pp.137. ⟨10.1186/s13148-021-01117-2⟩.

مصطلحات موضوعية: Secondary epimutation, Promoter hypermethylation, CpG island, Methylmalonic aciduria and homocystinuria, cblC type, cblC disease, Epi-cblC, Expanded newborn screening (NBS), [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34215320; hal-03278520; https://hal.sorbonne-universite.fr/hal-03278520Test; https://hal.sorbonne-universite.fr/hal-03278520/documentTest; https://hal.sorbonne-universite.fr/hal-03278520/file/s13148-021-01117-2.pdfTest; PUBMED: 34215320; PUBMEDCENTRAL: PMC8254308; WOS: 000669202600001

الإتاحة: https://doi.org/10.1186/s13148-021-01117-2Test
https://hal.sorbonne-universite.fr/hal-03278520Test
https://hal.sorbonne-universite.fr/hal-03278520/documentTest
https://hal.sorbonne-universite.fr/hal-03278520/file/s13148-021-01117-2.pdfTest

المؤلفون: Malvagia, Sabrina, Ferri, Lorenzo, Della Bona, Maria, Borsini, Walter, Cirami, Calogero Lino, Dervishi, Egrina, Feriozzi, Sandro, Gasperini, Serena, Motta, Serena, Mignani, Renzo, Trezzi, Barbara, Pieruzzi, Federico, Morrone, Amelia, Daniotti, Marta, Donati, Maria Alice, la Marca, Giancarlo

المساهمون: AIAF, Italian Anderson-Fabry Disease Association Onlus

المصدر: Clinical Chemistry and Laboratory Medicine (CCLM) ; volume 59, issue 9, page 1516-1526 ; ISSN 1434-6621 1437-4331

الإتاحة: https://doi.org/10.1515/cclm-2021-0316Test

المؤلفون: Funghini, Silvia, Tonin, Rodolfo, Malvagia, Sabrina, Caciotti, Anna, Donati, Maria Alice, Morrone, Amelia, la Marca, Giancarlo

المصدر: Molecular Genetics and Metabolism Reports ; volume 25, page 100689 ; ISSN 2214-4269

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.ymgmr.2020.100689Test
https://api.elsevier.com/content/article/PII:S221442692030135X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S221442692030135X?httpAccept=text/plainTest

المؤلفون: Casetta, Bruno, Malvagia, Sabrina, Funghini, Silvia, Martinelli, Diego, Dionisi-Vici, Carlo, Barone, Rita, Fiumara, Agata, Donati, Maria Alice, Guerrini, Renzo, la Marca, Giancarlo

المصدر: Clinical Chemistry and Laboratory Medicine (CCLM) ; volume 59, issue 1, page 165-171 ; ISSN 1437-4331 1434-6621

الإتاحة: https://doi.org/10.1515/cclm-2020-0650Test
https://www.degruyter.com/view/journals/cclm/59/1/article-p165.xmlTest

المؤلفون: Calbi, Valeria, Fumagalli, Francesca, Fratini, Elena Sophia, Palasciano, Andrea, Recupero, Salvatore, Gallo, Vera, De Mattia, Fabiola, Corti, Ambra, Bona, Maria Della, Malvagia, Sabrina, Forni, Giulia, La Marca, Giancarlo, Aiuti, Alessandro

المصدر: Molecular Genetics and Metabolism ; volume 138, issue 2, page 107043 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2022.107043Test
https://api.elsevier.com/content/article/PII:S1096719222005212?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719222005212?httpAccept=text/plainTest

المؤلفون: Funghini, Silvia, Malvagia, Sabrina, Polo, Giulia, la Marca, Giancarlo

المصدر: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ; page 75-84 ; ISBN 9783030677268 9783030677275

الإتاحة: https://doi.org/10.1007/978-3-030-67727-5_6Test