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1دورية أكاديمية
المؤلفون: Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, Brigitte Chabrol, Christina L. Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt II
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Lysosomal storage disease, Non-immune hydrops fetalis, β-glucuronidase deficiency, Mucopolysaccharidosis VII, MPS VII, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth L. Thurberg, Abhimanyu Yarramaneni, Nicole M. Armstrong, Yong Kim, Monica Kumar
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
مصطلحات موضوعية: Recombinant human acid sphingomyelinase, Dose escalation, Organomegaly, Lung diffusing capacity, Acid sphingomyelinase deficiency, Niemann–Pick type B, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3دورية أكاديمية
المؤلفون: Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto e Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
المصدر: Genetics and Molecular Biology, Vol 47, Iss 1 (2024)
مصطلحات موضوعية: Sanfilippo syndrome, Mucopolysaccharidosis IIIB, MPS Brazil Network, lysosomal storage diseases, heparan sulfate, Brazil, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Matheus Vernet Machado Bressan Wilke, Fabiano Poswar, Wyllians Vendramini Borelli, Kristiane Michelin Tirelli, Dévora Natalia Randon, Franciele Fátima Lopes, Fernanda Bender Pasetto, Fernanda Medeiros Sebastião, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio da Silva, Francyne Kubaski, Artur Francisco Schumacher Schuh, Roberto Giugliani, Ida Vanessa Doederlein Schwartz
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
مصطلحات موضوعية: Gaucher disease, Parkinson`s disease, Non-motor symptoms, Cerebrospinal fluid, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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5دورية أكاديمية
المؤلفون: Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Barbara Burton, Ans van der Ploeg, Esmeralda Martins, Consuelo Durand, Brigitte Chabrol, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101157- (2024)
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Can Ficicioglu, Nicole Muschol, Barbara Burton, Martin Magner, Mercedes Gil-Campos, Monica Lopez Rodriguez, Parul Jayakar, Allan Lund, Galit Tal, Jose Elias Garcia-Ortiz, Karolina Stepien, Carolyn Ellaway, Walla Al-Hertani, Roberto Giugliani, Sara Cathey, Julia Hennermann, Christina Lampe, Markey McNutt, Florian Lagler, Maurizio Scarpa, Vernon Sutton, Nathalie Guffon
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101385- (2024)
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Júlia F. Lemos, Fernanda B. Pasetto, Carolina S. Brasil, Franciele B. Trapp, Jonas Alex Morales Saute, Karina Carvalho Donis, Michele Michelin Becker, Paloma Wiest, Vivian L. S. Coutinho, Simone Castro, Juliana Ferreira, Cynthia Silveira, Maria Fernanda R. Bittar, Cristina Wang, Janaina M. Lana, Marcondes Cavalcante França Junior, Roberto Giugliani
المصدر: Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2023)
مصطلحات موضوعية: Spinal Muscular Atrophy, neonatal screening, Brazil, real-time PCR, MLPA, Genetics, QH426-470
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano O. Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, Ida Vanessa D. Schwartz
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 5, p 2870 (2024)
مصطلحات موضوعية: Gaucher disease, glucosylceramide, multiple myeloma, CSF, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Christopher Bolton, Andrea Dardis, Anna Lehman, Olivier Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Ezgü, Magali Pettazzoni, Barbara Sjouke, Carla Hollak, Marie T. Vanier, Margaret McGovern, Edward Schuchman
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-28 (2023)
مصطلحات موضوعية: Acid sphingomyelinase deficiency, ASMD, Niemann–Pick disease, Niemann–Pick disease-a,b,a/b, Guidelines, Diagnosis, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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10دورية أكاديمية
المؤلفون: Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Aimè Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa I. Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio
المصدر: Frontiers in Public Health, Vol 11 (2023)
مصطلحات موضوعية: undiagnosed diseases, developing nations, rare diseases, survey, GPD, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource