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1دورية أكاديمية
المؤلفون: Bayarsaikhan, Delger, Poletto, Edina
المصدر: Frontiers in Genome Editing ; volume 6 ; ISSN 2673-3439
مصطلحات موضوعية: Education, Cultural Studies
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2دورية أكاديمية
المؤلفون: Delgado, Camila Aguilar, Poletto, Edina, Vera, Luisa Natalia Pimentel, Jacques, Carlos Eduardo Diaz, Vianna, Priscila, Reinhardt, Luiza Steffens, Baldo, Guilherme, Vargas, Carmen Regla
المصدر: Cell Biochemistry and Function ; volume 42, issue 2 ; ISSN 0263-6484 1099-0844
الإتاحة: https://doi.org/10.1002/cbf.3932Test
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3دورية أكاديمية
المؤلفون: Poletto, Edina, Marathe, Manasvi, Margittai, Dana, Liu, Xikun, Jiang, Qiaoshi, Deshpande, Trupti, Fazeli, Fariba, Ikeda, Tsutomu, Van Horn, Timothy, Gomez-Ospina, Natalia
المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 108000 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2023.108000Test
https://api.elsevier.com/content/article/PII:S1096719223006303?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719223006303?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Pimentel Vera, Luisa N., Gastou, Marc, Arozqueta-Basurto, Jessica, Colella, Pasqualina, Feng, Allan, Poletto, Edina, Gomez-Ospina, Natalia
المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 107998 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107998Test
https://api.elsevier.com/content/article/PII:S1096719223006285?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719223006285?httpAccept=text/plainTest -
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: Civallero, Gabriel Eduardo Santiago, Kubaski, Francyne, Pereira, Danilo, Rübensam, Gabriel, Herbst, Zackary M., Silva, Camilo, Trapp, Franciele Barbosa, Poletto, Édina, Faqueti, Larissa Gabriela, Iop, Gabrielle Dineck, Soares, Juliano, Linden, Vanessa van der, Lourenço, Charles Marques, Giugliani, Roberto
مصطلحات موضوعية: Aromatic l-amino acid decarboxylase, AADC deficiency, DDC gene3-ortho-methyl-dopa, 3-OMD, Dopamine, Tandem mass spectrometry, Diagnóstico, Bioquímica, Plasma, Espectrometria de massas em Tandem, Cromatografia líquida
وصف الملف: application/pdf
العلاقة: Molecular genetics and metabolism reports. New York. Vol. 32 (2022), 100888, 4 p.; http://hdl.handle.net/10183/245608Test; 001145715
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8دورية أكاديمية
المؤلفون: Poswar, Fabiano de Oliveira, Henriques Nehm, Johanna, Kubaski, Francyne, Poletto, Edina, Giugliani, Roberto
المصدر: Therapeutics and Clinical Risk Management ; volume Volume 18, page 1143-1155 ; ISSN 1178-203X
الإتاحة: https://doi.org/10.2147/tcrm.s351300Test
https://www.dovepress.com/getfile.php?fileID=86371Test -
9دورية أكاديمية
المؤلفون: Poletto, Edina, Colella, Pasqualina, Pimentel Vera, Luisa N., Khan, Shaukat, Tomatsu, Shunji, Baldo, Guilherme, Gomez-Ospina, Natalia
المساهمون: University of Pennsylvania The Orphan Disease Center, NIH
المصدر: Molecular Therapy - Methods & Clinical Development ; volume 25, page 392-409 ; ISSN 2329-0501
مصطلحات موضوعية: Genetics, Molecular Biology, Molecular Medicine
الإتاحة: https://doi.org/10.1016/j.omtm.2022.04.009Test
https://api.elsevier.com/content/article/PII:S2329050122000572?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2329050122000572?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Civallero, Gabriel, Kubaski, Francyne, Pereira, Danilo, Rübensam, Gabriel, Herbst, Zackary M., Silva, Camilo, Trapp, Franciele B., Poletto, Edina, Faqueti, Larissa, Iop, Gabrielle, Soares, Juliano, van der Linden, Vanessa, van der Linden, Helio, Lourenço, Charles M., Giugliani, Roberto
المصدر: Molecular Genetics and Metabolism Reports ; volume 32, page 100888 ; ISSN 2214-4269
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1016/j.ymgmr.2022.100888Test
https://api.elsevier.com/content/article/PII:S2214426922000489?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426922000489?httpAccept=text/plainTest