المؤلفون: Pavone, Piero, Praticò, Andrea D., Sorge, Giovanni, Meli, Concetta, Ruggieri, Martino, Rizzo, Renata, Fiumara, Agata

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2017 5

مصطلحات موضوعية: brain dysfunction, hyperprolinemia type I, metabolic anomaly, POX deficiency, psychomotor retardation

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100802

المؤلفون: Cirnigliaro, Lara, Pettinato, Fabio, Valle, Maria Stella, Casabona, Antonino, Fiumara, Agata, Vecchio, Michele, Amico, Valerio, Rizzo, Renata, Jaeken, Jaak, Barone, Rita, Cioni, Matteo

المصدر: Orphanet Journal of Rare Diseases ; volume 19, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-024-03027-x
https://link.springer.com/content/pdf/10.1186/s13023-024-03027-x.pdf
https://link.springer.com/article/10.1186/s13023-024-03027-x/fulltext.html

المؤلفون: Toscano, Antonio, Musumeci, Olimpia, Sacchini, Michele, Ravaglia, Sabrina, Siciliano, Gabriele, Fiumara, Agata, Verrecchia, Elena, Maione, Melania, Gentile, Jennifer, Fischetto, Rita, Crescimanno, Grazia, Taurisano, Roberta, Sechi, Annalisa, Gasperini, Serena, Cianci, Vittoria, Maggi, Lorenzo, Parini, Rossella, Lupica, Antonino, Scarpa, Maurizio

المساهمون: Sanofi

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-023-02919-8
https://link.springer.com/content/pdf/10.1186/s13023-023-02919-8.pdf
https://link.springer.com/article/10.1186/s13023-023-02919-8/fulltext.html

المؤلفون: Di Rocco, Maja, Vici, Carlo Dionisi, Burlina, Alberto, Venturelli, Francesco, Fiumara, Agata, Fecarotta, Simona, Donati, Maria Alice, Spada, Marco, Concolino, Daniela, Pession, Andrea

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-023-02797-0
https://link.springer.com/content/pdf/10.1186/s13023-023-02797-0.pdf
https://link.springer.com/article/10.1186/s13023-023-02797-0/fulltext.html

المؤلفون: Ng, Bobby G, Shiryaev, Sergey A, Rymen, Daisy, Eklund, Erik A, Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E, Alehan, Fusun, Midro, Alina T, Bamshad, Michael J, Barone, Rita, Berry, Gerard T, Brumbaugh, Jane E, Buckingham, Kati J, Clarkson, Katie, Cole, F Sessions, O'Connor, Shawn, Cooper, Gregory M, Coster, Rudy, Demmer, Laurie A, Diogo, Luisa, Fay, Alexander J, Ficicioglu, Can, Fiumara, Agata, Gahl, William A, Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A, He, Miao, Jaeken, Jaak, James, Philip M, Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J, Lachlan, Katherine, Lam, Christina, Yaplito‐Lee, Joy, Nickerson, Deborah A, Peters, Heidi L, Race, Valerie, Régal, Luc, Rush, Jeffrey S, Rutledge, S Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E, Trapane, Pamela, Sanchez‐Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J, Wang, Raymond Y, Wolfe, Lynne A, Wong, Derek A, Wood, Tim, Yang, Amy C, Genomics, University of Washington Center for Mendelian, Matthijs, Gert, Freeze, Hudson H

المصدر: Human Mutation. 37(7)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Pediatric, Clinical Research, Rare Diseases, Genetics, 2.1 Biological and endogenous factors, Aetiology, Biomarkers, Congenital Disorders of Glycosylation, Female, Genes, Lethal, Glycosylation, Humans, Male, Mannosyltransferases, Mutation, Polysaccharides, Sequence Analysis, DNA, Survival Analysis, CDG, asparagine-linked glycosylation protein 1, carbohydrate-deficient transferrin, xeno-tetrasaccharide, University of Washington Center for Mendelian Genomics, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5bt1h53p

المؤلفون: Cirnigliaro, Lara, Bianchi, Paolo, Sturiale, Luisa, Garozzo, Domenico, Mangili, Giovanna, Keldermans, Liesbeth, Rizzo, Renata, Matthijs, Gert, Fiumara, Agata, Jaeken, Jaak, Barone, Rita

المصدر: Birth Defects Research ; volume 114, issue 5-6, page 165-174 ; ISSN 2472-1727 2472-1727

الاتاحة: http://dx.doi.org/10.1002/bdr2.1981
https://onlinelibrary.wiley.com/doi/pdf/10.1002/bdr2.1981
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/bdr2.1981

المؤلفون: Pappalardo, Maria Grazia, Di Nora, Alessandra, Giugno, Andrea, Meli, Concetta, Sapuppo, Annamaria, Pavone, Piero, Fiumara, Agata

المصدر: Global Medical Genetics ; volume 09, issue 03, page 247-251 ; ISSN 2699-9404

الاتاحة: http://dx.doi.org/10.1055/s-0042-1756661
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0042-1756661.pdf

المؤلفون: Gragnaniello, Vincenza, Deodato, Federica, Gasperini, Serena, Donati, Maria Alice, Canessa, Clementina, Fecarotta, Simona, Pascarella, Antonia, Spadaro, Giuseppe, Concolino, Daniela, Burlina, Alberto, Parenti, Giancarlo, Strisciuglio, Pietro, Fiumara, Agata, Casa, Roberto Della

المصدر: Italian Journal of Pediatrics ; volume 48, issue 1 ; ISSN 1824-7288

الاتاحة: http://dx.doi.org/10.1186/s13052-022-01219-4
https://link.springer.com/content/pdf/10.1186/s13052-022-01219-4.pdf
https://link.springer.com/article/10.1186/s13052-022-01219-4/fulltext.html

المؤلفون: Sestito, Simona, Rinninella, Giada, Rampazzo, Angelica, D’Avanzo, Francesca, Zampini, Lucia, Santoro, Lucia, Gabrielli, Orazio, Fiumara, Agata, Barone, Rita, Volpi, Nicola, Scarpa, Maurizio, Tomanin, Rosella, Concolino, Daniela

المساهمون: Ministero dell’Istruzione, dell’Università e della Ricerca

المصدر: Orphanet Journal of Rare Diseases ; volume 17, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-022-02396-5
https://link.springer.com/content/pdf/10.1186/s13023-022-02396-5.pdf
https://link.springer.com/article/10.1186/s13023-022-02396-5/fulltext.html

المؤلفون: Pizzo, Francesco, Di Nora, Alessandra, Di Mari, Alessia, Costanza, Giuseppe, Testa, Elisabetta, Strazzieri, Marianna, Greco, Filippo, Timpanaro, Tiziana, Basile, Antonio, Belfiore, Giuseppe, Giugno, Andrea, Rocca, Roberta, Ruggieri, Martino, Fiumara, Agata, Pavone, Piero

المصدر: Frontiers in Neurology ; volume 13 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2022.885897
https://www.frontiersin.org/articles/10.3389/fneur.2022.885897/full

المؤلفون: Altassan, Ruqaiah, Radenkovic, Silvia, Edmondson, Andrew C., Barone, Rita, Brasil, Sandra, Cechova, Anna, Coman, David, Donoghue, Sarah, Falkenstein, Kristina, Ferreira, Vanessa, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Grunewald, Stephanie, Honzik, Tomas, Jaeken, Jaak, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques-da-Silva, Dorinda, Pascoal, Carlota, Quelhas, Dulce, Raymond, Kimiyo M., Rymen, Daisy, Seroczynska, Malgorzata, Serrano, Mercedes, Sykut-Cegielska, Jolanta, Thiel, Christian, Tort, Frederic, Vals, Mari Anne, Videira, Paula, Voermans, Nicol, Witters, Peter, Morava, Eva

المساهمون: UCIBIO - Applied Molecular Biosciences Unit, DCV - Departamento de Ciências da Vida, RUN

مصطلحات موضوعية: congenital disorder of glycosylation, d-galactose, management guidelines, PGM1-CDG, phosphoglucomutase 1 deficiency, Genetics, Genetics(clinical)

وصف الملف: application/pdf

Relation: 0141-8955; PURE: 20017548

الاتاحة: http://hdl.handle.net/10362/114760

المؤلفون: Wilson, Matthew P., Garanto, Alejandro, Pinto e Vairo, Filippo, Ng, Bobby G., Ranatunga, Wasantha K., Ventouratou, Marina, Baerenfaenger, Melissa, Huijben, Karin, Thiel, Christian, Ashikov, Angel, Keldermans, Liesbeth, Souche, Erika, Vuillaumier-Barrot, Sandrine, Dupré, Thierry, Michelakakis, Helen, Fiumara, Agata, Pitt, James, White, Susan M., Lim, Sze Chern, Gallacher, Lyndon, Peters, Heidi, Rymen, Daisy, Witters, Peter, Ribes, Antonia, Morales-Romero, Blai, Rodríguez-Palmero, Agustí, Ballhausen, Diana, de Lonlay, Pascale, Barone, Rita, Janssen, Mirian C.H., Jaeken, Jaak, Freeze, Hudson H., Matthijs, Gert, Morava, Eva, Lefeber, Dirk J.

المصدر: Wilson , M P , Garanto , A , Pinto e Vairo , F , Ng , B G , Ranatunga , W K , Ventouratou , M , Baerenfaenger , M , Huijben , K , Thiel , C , Ashikov , A , Keldermans , L , Souche , E , Vuillaumier-Barrot , S , Dupré , T , Michelakakis , H , Fiumara , A , Pitt , J , White , S M , Lim , S C , Gallacher , L , Peters , H , Rymen , D , Witters , P , ....

مصطلحات موضوعية: congenital disorders of glycosylation, dominant inheritance, glycosylation, oligosaccharyltransferase complex

الاتاحة: https://research.vu.nl/en/publications/1bed4f1e-f652-4ed4-a577-46c9142faa56
https://doi.org/10.1016/j.ajhg.2021.09.012
https://hdl.handle.net/1871.1/1bed4f1e-f652-4ed4-a577-46c9142faa56
http://www.scopus.com/inward/record.url?scp=85118510371&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85118510371&partnerID=8YFLogxK

المؤلفون: Pettinato, Fabio, Mostile, Giovanni, Battini, Roberta, Martinelli, Diego, Madeo, Annalisa, Biamino, Elisa, Frattini, Daniele, Garozzo, Domenico, Gasperini, Serena, Parini, Rossella, Sirchia, Fabio, Sortino, Giuseppe, Sturiale, Luisa, Matthijs, Gert, Morrone, Amelia, Di Rocco, Maja, Rizzo, Renata, Jaeken, Jaak, Fiumara, Agata, Barone, Rita

المساهمون: Università degli Studi di Catania

المصدر: The Cerebellum ; volume 20, issue 4, page 596-605 ; ISSN 1473-4222 1473-4230

الاتاحة: http://dx.doi.org/10.1007/s12311-021-01242-x
https://link.springer.com/content/pdf/10.1007/s12311-021-01242-x.pdf
https://link.springer.com/article/10.1007/s12311-021-01242-x/fulltext.html

المؤلفون: Nicotera, Antonio Gennaro, Spoto, Giulia, Calì, Francesco, Romeo, Giusi, Musumeci, Antonino, Vinci, Mirella, Fiumara, Agata, Barone, Rita, Di Rosa, Gabriella, Musumeci, Sebastiano Antonino

المصدر: Molecular Syndromology ; volume 12, issue 5, page 327-332 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000516606
https://www.karger.com/Article/Pdf/516606

المؤلفون: Barone, Rita, Fiumara, Agata, Gulisano, Mariangela, Cirnigliaro, Lara, Cocuzza, Maria Donatella, Guida, Claudia, Pettinato, Fabio, Greco, Filippo, Elia, Maurizio, Rizzo, Renata

المصدر: Frontiers in Neurology ; volume 12 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2021.705423
https://www.frontiersin.org/articles/10.3389/fneur.2021.705423/full

المؤلفون: Naidu, SakkuBai, Bibat, Genila, Lin, Doris, Burger, Peter, Barker, Peter, Rosemberg, Sergio, Braverman, Nancy, Arroyo, Hugo, Dowling, Michael, Hamosh, Ada, Kimonis, Virginia, Blank, Carol, Fiumara, Agata, Facchini, Sergio, Singhal, Bhim, Moser, Hugo, Kelley, Richard, DiMauro, Salvatore

المصدر: Annals of Neurology. 58(6)

مصطلحات موضوعية: Acquired Cognitive Impairment, Aging, Biomedical Imaging, Genetics, Neurosciences, Neurodegenerative, Clinical Research, Rare Diseases, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Biopsy, Brain, Child, Child, Preschool, Disease Progression, Female, Genes, Recessive, Heredodegenerative Disorders, Nervous System, Humans, Infant, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Male, Clinical Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/123174c3

المؤلفون: Scarpa, Maurizio, Barbato, Antonio, Bisconti, Annalisa, Burlina, Alberto, Concolino, Daniela, Deodato, Federica, Di Rocco, Maja, Dionisi-Vici, Carlo, Donati, Maria Alice, Fecarotta, Simona, Fiumara, Agata, Galeone, Carlotta, Giona, Fiorina, Giuffrida, Gaetano, Manna, Raffaele, Mariani, Paolo, Pession, Andrea, Scopinaro, Annalisa, Spada, Marco, Spandonaro, Federico, Trifirò, Gianluca, Carubbi, Francesca, Cappellini, Maria Domenica

المساهمون: Scarpa, Maurizio, Barbato, Antonio, Bisconti, Annalisa, Burlina, Alberto, Concolino, Daniela, Deodato, Federica, Di Rocco, Maja, Dionisi-Vici, Carlo, Donati, Maria Alice, Fecarotta, Simona, Fiumara, Agata, Galeone, Carlotta, Giona, Fiorina, Giuffrida, Gaetano, Manna, Raffaele, Mariani, Paolo, Pession, Andrea, Scopinaro, Annalisa, Spada, Marco, Spandonaro, Federico, Trifirò, Gianluca, Carubbi, Francesca, Cappellini, Maria Domenica

مصطلحات موضوعية: Acid sphingomyelinase deficiency, Consensu, Delphi method, Italy, Niemann–Pick disease, Rare disease

Relation: info:eu-repo/semantics/altIdentifier/pmid/36882619; info:eu-repo/semantics/altIdentifier/wos/WOS:000945394300001; volume:18; issue:3; firstpage:831; lastpage:842; numberofpages:12; journal:INTERNAL AND EMERGENCY MEDICINE; https://hdl.handle.net/11562/1087530; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149384341

الاتاحة: https://hdl.handle.net/11562/1087530
https://doi.org/10.1007/s11739-023-03238-3

المؤلفون: Altassan, Ruqaiah, Radenkovic, Silvia, Edmondson, Andrew C., Barone, Rita, Brasil, Sandra, Cechova, Anna, Coman, David, Donoghue, Sarah, Falkenstein, Kristina, Ferreira, Vanessa, Ferreira, Carlos, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Grunewald, Stephanie, Honzik, Tomas, Jaeken, Jaak, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques‐da‐Silva, Dorinda, Pascoal, Carlota, Quelhas, D, Raymond, Kimiyo M., Rymen, Daisy, Seroczynska, Malgorzata, Serrano, Mercedes, Sykut‐Cegielska, Jolanta, Thiel, Christian, Tort, Frederic, Vals, Mari‐Anne, Videira, Paula, Voermans, Nicol, Witters, Peter, Morava, Eva

مصطلحات موضوعية: d-galactose, PGM1-CDG, congenital disorder of glycosylation, management guidelines, phosphoglucomutase 1 deficiency

Relation: Altassan R, Radenkovic S, Edmondson AC, et al. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. J Inherit Metab Dis. 2021;44(1):148-163. doi:10.1002/jimd.12286; http://hdl.handle.net/10400.16/2810

الاتاحة: http://hdl.handle.net/10400.16/2810
https://doi.org/10.1002/jimd.12286

المؤلفون: Sapuppo, Annamaria, Pavone, Piero, Praticò, Andrea Domenico, Ruggieri, Martino, Bertino, Gaetano, Fiumara, Agata

المصدر: BMC Medical Genetics ; volume 21, issue 1 ; ISSN 1471-2350

الاتاحة: http://dx.doi.org/10.1186/s12881-020-01062-6
https://link.springer.com/content/pdf/10.1186/s12881-020-01062-6.pdf
https://link.springer.com/article/10.1186/s12881-020-01062-6/fulltext.html

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

الاتاحة: http://dx.doi.org/10.1515/cclm-2020-0650
https://www.degruyter.com/view/journals/cclm/59/1/article-p165.xml
https://www.degruyter.com/document/doi/10.1515/cclm-2020-0650/xml
https://www.degruyter.com/document/doi/10.1515/cclm-2020-0650/pdf