المؤلفون: Mengel, Eugen, Patterson, Marc C, Da Riol, Rosalia M, Del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Harmatz, Paul, Héron, Bénédicte, Maier, Esther M, Roubertie, Agathe, Santra, Saikat, Tylki‐Szymanska, Anna, Day, Simon, Andreasen, Anne Katrine, Geist, Marie Aavang, Petersen, Nikolaj Havnsøe Torp, Ingemann, Linda, Hansen, Thomas, Blaettler, Thomas, Kirkegaard, Thomas, Dali, Christine

المصدر: Journal of Inherited Metabolic Disease. 44(6)

مصطلحات موضوعية: Clinical Research, Clinical Trials and Supportive Activities, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adolescent, Child, Child, Preschool, Disease Progression, Double-Blind Method, Female, Humans, Hydroxylamines, Internationality, Male, Niemann-Pick Disease, Type C, Prospective Studies, Severity of Illness Index, Treatment Outcome, Young Adult, arimoclomol, biomarker, double-blindplacebo-controlled, heat shock protein, Niemann-Pick disease type C, NPC clinical severity scale, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2zk0w272
https://escholarship.org/content/qt2zk0w272/qt2zk0w272.pdf

المؤلفون: Deodato, Federica, Boenzi, Sara, Greco, Benedetta, Graziosi, Alessia, Dionisi-Vici, Carlo

المصدر: Frontiers in Pediatrics; 2025, p1-8, 8p

المؤلفون: Ditters, Imke Anne Maartje, Huidekoper, Hidde Harmen, Kruijshaar, Michelle Elisabeth, Rizopoulos, Dimitris, Hahn, Andreas, Mongini, Tiziana Enrica, Labarthe, François, Tardieu, Marine, Chabrol, Brigitte, Brassier, Anais, Parini, Rossella, Parenti, Giancarlo, van Der Beek, Nadine Anna Maria Elisabeth, van Der Ploeg, Ans Tjitske, van den Hout, Johanna Maria Pieternel, Mengel, Eugen, Hennermann, Julia, Smitka, Martin, Muschol, Nicole, Marquardt, Thorsten, Marquardt, Martina, Thiels, Charlotte, Spada, Marco, Pagliardini, Veronica, Menni, Francesca, Della Casa, Roberto, Deodato, Federica, Gasperini, Serena, Burlina, Alberto, Donati, Alice, Pichard, Samia, Feillet, François, Huet, Fréderic, Mention, Karine, Eyer, Didier, Kuster, Alice, Espil Taris, Caroline, Lefranc, Jérémie, Barth, Magalie, Bruel, Henri, Chevret, Laurent, Pitelet, Gaele, Pitelet, Catherine, Rivier, Francois, Dobbelaere, Dries

المساهمون: Erasmus University Medical Center Rotterdam (Erasmus MC), Justus-Liebig-Universität Gießen = Justus Liebig University (JLU), Università degli studi di Torino = University of Turin (UNITO), Niche, Nutrition, Cancer et métabolisme oxydatif (N2Cox), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE), Service de neurologie pédiatrique CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), San Gerardo Hospital Monza, Italy (SGH), University of Naples Federico II = Università degli studi di Napoli Federico II, Johannes Gutenberg - Universität Mainz = Johannes Gutenberg University (JGU), Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), University Hospital Münster - Universitaetsklinikum Muenster Germany (UKM), IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, AP-HP Hôpital universitaire Robert-Debré Paris, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Physiopathologie des Adaptations Nutritionnelles (PhAN), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)

المصدر: ISSN: 2352-4642.

مصطلحات موضوعية: ENZYME REPLACEMENT THERAPY, GLYCOGEN-STORAGE, RABBIT MILK, GLUCOSIDASE, MUSCLE, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/34822769; PUBMED: 34822769; WOS: 000823076100017

الاتاحة: https://hal.science/hal-03452931
https://hal.science/hal-03452931v1/document
https://hal.science/hal-03452931v1/file/2021%20Ditters%20et%20%20al.,%20Effect%20of%20alglucosidase.pdf
https://doi.org/10.1016/S2352-4642(21)00308-4

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: Rossi, Alessandro, Romano, Roberta, Fecarotta, Simona, Dell'Anno, Margherita, Pecorella, Valentina, Passeggio, Roberta, Zancan, Stefano, Parenti, Giancarlo, Santamaria, Francesca, Borgia, Francesco, Deodato, Federica, Funghini, Silvia, Rupar, Charles A, Prasad, Chitra, O'Callaghan, Mar, Mitchell, John J, Valsecchi, Maria Grazia, la Marca, Giancarlo, Galimberti, Stefania, Auricchio, Alberto, Brunetti-Pierri, Nicola

المصدر: Med ; ISSN:2666-6340

مصطلحات موضوعية: AAV, Translation to patients, adeno-associated virus, arylsulfatase B, gene therapy, inherited metabolic disorders, lysosomal storage disorders, mucopolysaccharidosis type VI

Relation: https://doi.org/10.1016/j.medj.2024.10.021; https://pubmed.ncbi.nlm.nih.gov/39547230

الاتاحة: https://doi.org/10.1016/j.medj.2024.10.021
https://pubmed.ncbi.nlm.nih.gov/39547230

المؤلفون: Mengel, Eugen, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Symonds, Tara, Hudgens, Stacie, Patterson, Marc C., Guldberg, Christina, Ingemann, Linda, Petersen, Nikolaj H. T., Kirkegaard, Thomas, Dali, Christine í

المصدر: Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine; Héron, Bénédicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C.; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H. T.; Kirkegaard, Thomas; . (2021). Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study. Orphanet journal of rare diseases, 16(1), p. 246. BioMed Central 10.1186/s13023-021-01855-9

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/164181/

الاتاحة: https://boris.unibe.ch/164181/1/s13023-021-01855-9.pdf
https://boris.unibe.ch/164181/

المؤلفون: Semeraro, Michela, Sacchetti, Elisa, Deodato, Federica, Coşkun, Turgay, Lay, Incilay, Catesini, Giulio, Olivieri, Giorgia, Rizzo, Cristiano, Boenzi, Sara, Dionisi-Vici, Carlo

المساهمون: Chiesi Farmaceutici, Sanofi Genzyme

المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-020-01662-8
http://link.springer.com/content/pdf/10.1186/s13023-020-01662-8.pdf
http://link.springer.com/article/10.1186/s13023-020-01662-8/fulltext.html

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: Mengel, Eugen, Bembi, Bruno, Del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Héron, Bénédicte, Maier, Esther M, Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Symonds, Tara, Hudgens, Stacie, Patterson, Marc C, Guldberg, Christina, Ingemann, Linda, Petersen, Nikolaj H T, Kirkegaard, Thomas, Í Dali, Christine

المصدر: Mengel, Eugen; Bembi, Bruno; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine; Héron, Bénédicte; Maier, Esther M; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H T; Kirkegaard, Thomas; . (2020). Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study. Orphanet journal of rare diseases, 15(1), p. 328. BioMed Central 10.1186/s13023-020-01616-0

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/150160/

الاتاحة: https://boris.unibe.ch/150160/7/s13023-020-01616-0.pdf
https://boris.unibe.ch/150160/

المؤلفون: Galeotti, Angela, De Rosa, Sara, Uomo, Roberto, Dionisi-Vici, Carlo, Deodato, Federica, Taurisano, Roberta, Olivieri, Giorgia, Festa, Paola

المساهمون: Erasmus+

المصدر: Orphanet Journal of Rare Diseases ; volume 15, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-020-01615-1
http://link.springer.com/content/pdf/10.1186/s13023-020-01615-1.pdf
http://link.springer.com/article/10.1186/s13023-020-01615-1/fulltext.html

المؤلفون: Paoletti, Matteo, Pichiecchio, Anna, Colafati, Giovanna Stefania, Conte, Giorgio, Deodato, Federica, Gasperini, Serena, Menni, Francesca, Furlan, Francesca, Rubert, Laura, Triulzi, Fabio Maria, Cinnante, Claudia

المصدر: Frontiers in Neurology ; volume 11 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2020.569153
https://www.frontiersin.org/articles/10.3389/fneur.2020.569153/full

المؤلفون: Scarpa, M, Barbato, A, Bisconti, A, Burlina, A, Concolino, D, Deodato, F, Di Rocco, M, Dionisi-Vici, C, Donati, M, Fecarotta, S, Fiumara, A, Galeone, C, Giona, F, Giuffrida, G, Manna, R, Mariani, P, Pession, A, Scopinaro, A, Spada, M, Spandonaro, F, Trifirò, G, Carubbi, F, Cappellini, M, 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 الفهرس: Acid sphingomyelinase deficiency, Consensu, Delphi method, Italy, Niemann–Pick disease, Rare disease, SECS-S/03 - STATISTICA ECONOMICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10281/405977
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

المؤلفون: Mehta, Atul, Kuter, David J., Salek, Sam S., Belmatoug, Nadia, Bembi, Bruno, Bright, Jeremy, vom Dahl, Stephan, Deodato, Federica, Di Rocco, Maja, Göker‐Alpan, Ozlem, Hughes, Derralynn A., Lukina, Elena A., Machaczka, Maciej, Mengel, Eugen, Nagral, Aabha, Nakamura, Kimitoshi, Narita, Aya, Oliveri, Beatriz, Pastores, Gregory, Pérez‐López, Jordi, Ramaswami, Uma, Schwartz, Ida V., Szer, Jeff, Weinreb, Neal J., Zimran, Ari

المساهمون: Shire International GmbH

المصدر: Internal Medicine Journal ; volume 49, issue 5, page 578-591 ; ISSN 1444-0903 1445-5994

الاتاحة: http://dx.doi.org/10.1111/imj.14156
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fimj.14156
https://onlinelibrary.wiley.com/doi/pdf/10.1111/imj.14156
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/imj.14156

المؤلفون: Tonin, Rodolfo, Caciotti, Anna, Procopio, Elena, Fischetto, Rita, Deodato, Federica, Mancardi, Maria Margherita, Di Rocco, Maja, Ardissone, Anna, Salviati, Alessandro, Marangi, Antonio, Strisciuglio, Pietro, Mangone, Giusi, Casini, Arianna, Ricci, Silvia, Fiumara, Agata, Parini, Rossella, Pavone, Francesco Saverio, Guerrini, Renzo, Calamai, Martino, Morrone, Amelia

المساهمون: EC | Horizon 2020 Framework Programme

المصدر: Scientific Reports ; volume 9, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-019-53995-5
https://www.nature.com/articles/s41598-019-53995-5.pdf
https://www.nature.com/articles/s41598-019-53995-5

المؤلفون: Begliuomini, Chiara, Magli, Giorgio, Di Rocco, Maja, Santorelli, Filippo M., Cassandrini, Denise, Nesti, Claudia, Deodato, Federica, Diodato, Daria, Casellato, Susanna, Simula, Delia M., Dessì, Veronica, Eusebi, Anna, Carta, Alessandra, Sotgiu, Stefano

المصدر: BMC Medical Genetics ; volume 20, issue 1 ; ISSN 1471-2350

الاتاحة: http://dx.doi.org/10.1186/s12881-019-0798-7
http://link.springer.com/content/pdf/10.1186/s12881-019-0798-7.pdf
http://link.springer.com/article/10.1186/s12881-019-0798-7/fulltext.html

المؤلفون: Tarallo, Antonietta, Carissimo, Annamaria, Gatto, Francesca, Nusco, Edoardo, Toscano, Antonio, Musumeci, Olimpia, Coletta, Marcella, Karali, Marianthi, Acampora, Emma, Damiano, Carla, Minopoli, Nadia, Fecarotta, Simona, Della Casa, Roberto, Mongini, Tiziana, Vercelli, Liliana, Santoro, Lucio, Ruggiero, Lucia, Deodato, Federica, Taurisano, Roberta, Bembi, Bruno, Dardis, Andrea, Banfi, Sandro, Pijnappel, Ww Pim, van der Ploeg, Ans T, Parenti, Giancarlo

المصدر: Genetics in Medicine ; volume 21, issue 3, page 591-600 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-018-0103-8
http://www.nature.com/articles/s41436-018-0103-8.pdf
http://www.nature.com/articles/s41436-018-0103-8
https://api.elsevier.com/content/article/PII:S1098360021010297?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021010297?httpAccept=text/plain

المؤلفون: Squeri, Giorgia, Passerini, Laura, Ferro, Francesca, Laudisa, Cecilia, Tomasoni, Daniela, Deodato, Federica, Donati, Maria Alice, Gasperini, Serena, Aiuti, Alessandro, Bernardo, Maria Ester, Gentner, Bernhard, Naldini, Luigi, Annoni, Andrea, Biffi, Alessandra, Gregori, Silvia

المساهمون: Telethon Foundation

المصدر: Molecular Therapy ; volume 27, issue 7, page 1215-1227 ; ISSN 1525-0016

الاتاحة: http://dx.doi.org/10.1016/j.ymthe.2019.04.014
https://api.elsevier.com/content/article/PII:S1525001619301807?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1525001619301807?httpAccept=text/plain

المؤلفون: Maines, Evelina, Franceschi, Roberto, Rizzardi, Caterina, Deodato, Federica, Piccoli, Giovanni, Gragnaniello, Vincenza, Burlina, Alberto, Soffiati, Massimo

المساهمون: Maines, Evelina, Franceschi, Roberto, Rizzardi, Caterina, Deodato, Federica, Piccoli, Giovanni, Gragnaniello, Vincenza, Burlina, Alberto, Soffiati, Massimo

مصطلحات موضوعية: Acid sphingomyelinase deficiency, Case report, Dyslipidemia, Lipid abnormalitie, Management, Niemann-Pick disease type B, Review

Relation: info:eu-repo/semantics/altIdentifier/pmid/35181260; info:eu-repo/semantics/altIdentifier/wos/WOS:000793357500004; volume:16; issue:2; firstpage:143; lastpage:154; numberofpages:12; journal:JOURNAL OF CLINICAL LIPIDOLOGY; https://hdl.handle.net/11572/379068; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85124656547

الاتاحة: https://hdl.handle.net/11572/379068
https://doi.org/10.1016/j.jacl.2022.01.008

المؤلفون: Parini, Rossella, De Lorenzo, Paola, Dardis, Andrea, Burlina, Alberto, Cassio, Alessandra, Cavarzere, Paolo, Concolino, Daniela, Della Casa, Roberto, Deodato, Federica, Donati, Maria Alice, Fiumara, Agata, Gasperini, Serena, Menni, Francesca, Pagliardini, Veronica, Sacchini, Michele, Spada, Marco, Taurisano, Roberta, Valsecchi, Maria Grazia, Di Rocco, Maja, Bembi, Bruno

المساهمون: Parini, R, De Lorenzo, P, Dardis, A, Burlina, A, Cassio, A, Cavarzere, P, Concolino, D, Della Casa, R, Deodato, F, Donati, M, Fiumara, A, Gasperini, S, Menni, F, Pagliardini, V, Sacchini, M, Spada, M, Taurisano, R, Valsecchi, M, Di Rocco, M, Bembi, B

مصطلحات موضوعية: Alglucosidase alpha, ERT, Infantile onset Pompe disease, Recombinant human GAA, rhGAA, Genetics (clinical), Pharmacology (medical)

Relation: info:eu-repo/semantics/altIdentifier/pmid/29422078; info:eu-repo/semantics/altIdentifier/wos/WOS:000425018400001; volume:13; issue:1; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/10281/203910; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041503065; http://www.ojrd.com/

الاتاحة: http://hdl.handle.net/10281/203910
https://doi.org/10.1186/s13023-018-0771-0
http://www.ojrd.com/

المؤلفون: Caciotti, Anna, Tonin, Rodolfo, Mort, Matthew, Cooper, David N., Gasperini, Serena, Rigoldi, Miriam, Parini, Rossella, Deodato, Federica, Taurisano, Roberta, Sibilio, Michelina, Parenti, Giancarlo, Guerrini, Renzo, Morrone, Amelia

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/115916/1/GALNS%20splicing%20mutations.pdf; Caciotti, Anna, Tonin, Rodolfo, Mort, Matthew https://orca.cardiff.ac.uk/view/cardiffauthors/A062506X.html, Cooper, David N. https://orca.cardiff.ac.uk/view/cardiffauthors/A0547623.html orcid:0000-0002-8943-8484 orcid:0000-0002-8943-8484, Gasperini, Serena, Rigoldi, Miriam, Parini, Rossella, Deodato, Federica, Taurisano, Roberta, Sibilio, Michelina, Parenti, Giancarlo, Guerrini, Renzo and Morrone, Amelia 2018. Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease. BMC Medical Genetics 19 (1) , 183. 10.1186/s12881-018-0694-6 https://doi.org/10.1186/s12881-018-0694-6 file https://orca.cardiff.ac.uk/id/eprint/115916/1/GALNS%20splicing%20mutations.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/115916/
https://doi.org/10.1186/s12881-018-0694-6
https://orca.cardiff.ac.uk/id/eprint/115916/1/GALNS%20splicing%20mutations.pdf