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1دورية 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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2دورية 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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3دورية أكاديمية
المؤلفون: Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Vanessa van der Linden, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani
المصدر: Molecular Genetics and Metabolism Reports, Vol 34, Iss , Pp 100945- (2023)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Vanessa van der Linden, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani
المصدر: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100888- (2022)
مصطلحات موضوعية: Aromatic l-amino acid decarboxylase (AADC), AADC deficiency, DDC gene, 3-ortho-methyl-dopa (3-OMD), Dopamine, Tandem mass spectrometry, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Francyne Kubaski, Alberto Burlina, Giulia Polo, Danilo Pereira, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Larissa Faqueti, Gabrielle D. Iop, Edina Poletto, Roberto Giugliani
المصدر: International Journal of Neonatal Screening, Vol 8, Iss 3, p 39 (2022)
مصطلحات موضوعية: Niemann-Pick disease type C, lysosphingomyelin-509, tandem mass spectrometry, biomarker, lysosomal storage disorder, Brazil, Pediatrics, RJ1-570
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Luíse Azevedo, Larissa Faqueti, Marina Kritsanida, Antonia Efstathiou, Despina Smirlis, Gilberto C. Franchi Jr, Grégory Genta-Jouve, Sylvie Michel, Louis P. Sandjo, Raphaël Grougnet, Maique W. Biavatti
المصدر: Beilstein Journal of Organic Chemistry, Vol 12, Iss 1, Pp 674-683 (2016)
مصطلحات موضوعية: CPC, guaiane, Jungia, trixanolide, Science, Organic chemistry, QD241-441
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1860-5397
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7
المؤلفون: Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Vanessa van der Linden, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani
المصدر: Mol Genet Metab Rep
مصطلحات موضوعية: Endocrinology, Genetics, Corrigendum, Molecular Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32ef75b8ef82bbd69d12f618cfc1ae29
https://europepmc.org/articles/PMC9979259/ -
8
المؤلفون: Layzon Antonio Lemos da Silva, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Henrique B.L. Borges, Francyne Kubaski, Franciele B. Trapp, Roberto Giugliani
المصدر: Molecular Genetics and Metabolism. 138:107200
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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9
المؤلفون: Larissa Faqueti, Gabrielle Iop, Layzon Antonio Lemos da Silva, Francyne Kubaski, Henrique B.L. Borges, Alice Brinckmann Oliveira Netto, Ana C. Brusius-Facchin, Sandra Leistner-Segal, Rejane Gus, Maria Teresa V. Sanseverino, Kristiane Michelin-Tirelli, Fernanda Bender Pasetto, Fernanda Medeiros Sebastiao, Thiago Oliveira Silva, José Antonio Azevedo Magalhães, Carolina Fischinger Moura de Souza, Salvatore Recupero, Valeria Calbi, Francesca Fumagalli, Alessandro Aiuti, Roberto Giugliani
المصدر: Molecular Genetics and Metabolism. 138:107094
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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10
المؤلفون: Francyne Kubaski, Ana Cecília Menezes, Zackary M. Herbst, Danilo Pereira, Camilo Silva, Larissa Faqueti, Gabrielle Iop, Franciele B. Trapp, Ana Carolina Brusius-Facchin, Alice B.O. Netto, Rejane G. Kessler, Kristiane Michelin-Tirelli, Maira G. Burin, Robert W. Mason, Shunji Tomatsu, Roberto Giugliani
المصدر: Molecular Genetics and Metabolism. 135:S69
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry