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1دورية أكاديمية
المؤلفون: Horovitz, Dafne Dain Gandelman, Ribeiro, Márcia Gonçalves, Acosta, Angelina Xavier, Monteiro, Ana Cristina Martins, Botha, Jaco, Giugliani, Roberto
مصطلحات موضوعية: Mucopolysaccharidosis II, Lysosomal storage diseases, Survival, Signs and symptom, Mucopolissacaridose II, Doenças por armazenamento dos lisossomos, Sobrevida
وصف الملف: application/pdf
العلاقة: International journal of neonatal screening. Basel. Vol. 11 (2023), e20230002, 10 p.; http://hdl.handle.net/10183/274703Test; 001198140
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2دورية أكاديمية
المؤلفون: Lopes, Nuno, Maia, Maria L., Pereira, Catia S., Rodrigues, Inês Mondragão, Martins, Esmeralda, Ribeiro, Rosa, Gaspar, Ana, Aguiar, Patrício, Garcia, Paula, Cardoso, Maria Teresa, Rodrigues, Esmeralda, Teles, Elisa Leão, Giugliani, Roberto, Coutinho, Maria F., Alves, Sandra, Macedo, Maria de Fátima Matos Almeida Henriques de
مصطلحات موضوعية: Linfócitos T, Glicosaminoglicanos, Células T matadoras naturais, Leucócitos, Doenças por armazenamento dos lisossomos, Mucopolissacaridoses, T cells, Glycosaminoglycans, Invariant natural killer T (iNKT) cells, Leukocytes, Lysosomal storage diseases, Mmucopolysaccharidoses
وصف الملف: application/pdf
العلاقة: Biomedicines. Basel. Vol. 11, no. 6 (Jun. 2023), 1699, 14 p.; http://hdl.handle.net/10183/274695Test; 001198080
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3دورية أكاديمية
المؤلفون: Diaz, George A., Giugliani, Roberto, Guffon, Nathalie, Jones, Simon A., Mengel, Eugen, Scarpa, Maurizio, Witters, Peter, Yarramanen, Abhimanyu, Jing, Li, Armstrong, Nicole M., Yong, Kim, Renon, Catherine Ortemann, Kumar, Monica
مصطلحات موضوعية: Biomarcadores, Doenças de Niemann-Pick, Doenças por armazenamento dos lisossomos, Espectrometria de massas em Tandem, Acid sphingomyelinase defciency, Lysosphingomyelin, Tandem mass spectrometry, Biomarker, NiemannPick type a/b
وصف الملف: application/pdf
العلاقة: Orphanet journal of rare diseases. [London]. Vol. 17 (2022), 391, 23 p.; http://hdl.handle.net/10183/255541Test; 001160963
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4دورية أكاديمية
المؤلفون: Carneiro, Luciana Behs de Sá, Souza, Carolina Fischinger Moura de, Giugliani, Roberto, Fagondes, Simone Chaves
مصطلحات موضوعية: Inborn errors of metabolism, Lysosomal disorders, Swallowing disorder, Videofluoroscopy, Deglutition, Deglutition disorders, Erros inatos do metabolismo, Doenças por armazenamento dos lisossomos, Transtornos de deglutição, Revisão
وصف الملف: application/pdf
العلاقة: Journal of inborn errors of metabolism & screening. Porto Alegre. Vol. 10 (2022), e20220004, 6 p.; http://hdl.handle.net/10183/255499Test; 001161247
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5دورية أكاديمية
المؤلفون: Kubaski, Francyne, Burlina, Alberto, Trapp, Franciele Barbosa, Tirelli, Kristiane Michelin, Lopes, Franciele Fátima, Facchin, Ana Carolina Brusius, Netto, Alice Brinckmann Oliveira, Poletto, Édina, Giugliani, Roberto
مصطلحات موضوعية: Biomarcadores, Doenças de Niemann-Pick, Doenças por armazenamento dos lisossomos, Espectrometria de massas em Tandem, Acid sphingomyelinase defciency, Lysosphingomyelin, Tandem mass spectrometry, Biomarker, NiemannPick type a/b
وصف الملف: application/pdf
العلاقة: Orphanet journal of rare diseases. [London]. Vol. 17 (2022), 391, 23 p.; http://hdl.handle.net/10183/255488Test; 001160950
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6دورية أكاديمية
المؤلفون: Kubaski, Francyne, Burlina, Alberto, Polo, Giulia, Pereira, Danilo, Herbst, Zackary M., Silva, Camilo, Trapp, Franciele Barbosa, Tirelli, Kristiane Michelin, Lopes, Franciele Fátima, Burin, Maira Graeff, Facchin, Ana Carolina Brusius, Netto, Alice Brinckmann Oliveira, Faqueti, Larissa Gabriela, Iop, Gabrielle Dineck, Poletto, Édina, Giugliani, Roberto
مصطلحات موضوعية: Doença de Niemann-Pick tipo C, Biomarcadores, Doenças por armazenamento dos lisossomos, Espectrometria de massas em Tandem, Niemann-Pick disease type C, Lysosphingomyelin-509, Tandem mass spectrometry, Biomarker, Lysosomal storage disorder, Brazil
وصف الملف: application/pdf
العلاقة: International journal of neonatal screening. Basel. Vol. 8, no. 3 (2022), 39, 10 p.; http://hdl.handle.net/10183/245584Test; 001145353
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7دورية أكاديمية
المؤلفون: Beck, Michael, Ramaswami, Uma, Hernberg-Stahl, E., Hughes, Derralynn A., Kampmann, Christoph, Mehta, Atul B., Nicholls, Kathleen M., Niu, Dauming, Pintos-Morell, G., Reisin, Ricardo, West, Michael L., Schenk, Jörn Magnus, Anagnostopoulou, Christina, Botha, Jaco, Giugliani, Roberto
مصطلحات موضوعية: Terapia de reposição de enzimas, Doenças por armazenamento dos lisossomos, Doença de Fabry, Agalsidase alfa, Enzyme replacement therapy, Fabry disease, Cardiovascular outcomes, Renal outcomes
وصف الملف: application/pdf
العلاقة: Orphanet journal of rare diseases. [London]. Vol. 17 (2022), 238, 14 p.; http://hdl.handle.net/10183/245631Test; 001145438
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8دورية أكاديمية
المؤلفون: Muenzer, Joseph, Botha, Jaco, Harmatz, Paul, Giugliani, Roberto, Kampmann, Christoph, Burton, Barbara K.
مصطلحات موضوعية: Mucopolissacaridose II, Doenças por armazenamento dos lisossomos, Modelos estatísticos, Prognóstico, Tratamento farmacológico, Terapia de reposição de enzimas, Mucopolysaccharidosis II, MPS II, Hunter syndrome, Lysosomal storage disease, Statistical modeling, Disease registry, Idursulfase, Enzyme replacement therapy
وصف الملف: application/pdf
العلاقة: Orphanet journal of rare diseases. [London]. Vol. 16 (2021), 456, 14 p.; http://hdl.handle.net/10183/234528Test; 001135869
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9دورية أكاديمية
المؤلفون: Amaral, Andreza da Silva, Sales, Nathali Adrielli Agassi de, Rosado, Isabel Rodrigues, Giugliani, Roberto, Burin, Maira Graeff, Baldo, Guilherme, Martin, Ian, Alves, Endrigo Gabellini Leonel
مصطلحات موضوعية: Doenças por armazenamento dos lisossomos, Mucopolissacaridose I, Glicosaminoglicanos, Cães, Lysosomal storage diseases, Mucopolysaccharidosis, Glycosaminoglycans, Multiple dysostosis, Alpha-L-iduronidase
وصف الملف: application/pdf
العلاقة: Acta scientiae veterinariae. Porto Alegre. Vol. 49, supl. 1 (2021), 637, p. 1-7.; http://hdl.handle.net/10183/234523Test; 001135868
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10دورية أكاديمية
المؤلفون: Zanetti, Alessandra, D'Avanzo, Francesca, AlSayed, M., Facchin, Ana Carolina Brusius, Chien, Yin-Hsiu, Giugliani, Roberto, Izzo, Emanuela, Kasper David C., Lin, Hsiang-Yu, Lin, Shuan-Pei, Pollard, Laura Malinda, Singh, Akashdeep, Tonin, Rodolfo, Wood, Tim J., Marrone, Amelia, Tomanin, Rosella
مصطلحات موضوعية: GALNS, Lysosomal storage disorder, Morquio A syndrome, MPS IVA, Mucopolysaccharidosis IVA, N-acetylgalactosamine-6-sulfate, Mucopolissacaridose IV, Revisão, Classificação, Mutação, Doenças por armazenamento dos lisossomos
وصف الملف: application/pdf
العلاقة: Human mutation. New York. Vol. 42 (2021), p. 1384–1398; http://hdl.handle.net/10183/234553Test; 001136186