المؤلفون: Wajner, Moacir, Sitta, Angela, Kayser, Aline, Deon, Marion, Groehs, Ana C., Coelho, Daniella M., Vargas, Carmen R.

المصدر: Genetics and Molecular Biology. January 2019 42(1)

مصطلحات موضوعية: Organic acidurias, aminoacidopathies, inborn errors of metabolism, selective screening

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200178Test

المؤلفون: Vargas, Carmen R, Deon, Marion, Sitta, Angela, Coelho, Daniella M, Silva, Patricia D, Murussi, Larissa, Fleith, Laura V, Crespo, Carolina, Wajner, Moacir, Sanseverino, Maria Teresa V

المصدر: Jornal Brasileiro de Patologia e Medicina Laboratorial. January 2020 56

مصطلحات موضوعية: mitochondrial β-oxidation defects, MCADD, fasting, acylcarnitines, organic acids

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442020000100702Test

المؤلفون: Deon, Marion

مرشدي الرسالة: Vargas, Carmen Regla, Wajner, Moacir

المصدر: Biblioteca Digital de Teses e Dissertações da UFRGSUniversidade Federal do Rio Grande do SulUFRGS.

مصطلحات موضوعية: Estresse oxidativo, Adrenoleucodistrofia, Cromossomo X, Síndrome de Zellweger

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10183/17424Test

المؤلفون: Deon, Marion

مرشدي الرسالة: Vargas, Carmen Regla, Wajner, Moacir

المصدر: Biblioteca Digital de Teses e Dissertações da UFRGSUniversidade Federal do Rio Grande do SulUFRGS.

مصطلحات موضوعية: Adrenoleucodistrofia, Estresse oxidativo, Ácidos graxos : Cadeia muito longa : Metabolismo, Óleo de Lorenzo : Uso terapêutico

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10183/5288Test

المؤلفون: Ribas, Graziela de Oliveira Schmitt, Vargas, Carmen Regla, Coelho, Daniella de Moura, Marchetti, Desirèe Padilha, Deon, Marion, Giugliani, Roberto

المساهمون: Congreso Latinoamericano de Errores innatos del Metabolismo y Pesquisa Neonatal (11. : 2019 : Buenos Aires, Argentina)

مصطلحات موضوعية: Medicina

وصف الملف: application/pdf

العلاقة: Journal of inborn errors of metabolism and screening. Porto Alegre, RS; http://hdl.handle.net/10183/250826Test; 001096777

الإتاحة: http://hdl.handle.net/10183/250826Test

المؤلفون: Marchetti, Desirèe Padilha, Steffens, L., Jacques, Carlos Eduardo Diaz, Deon, Marion, Coelho, Daniella de Moura, Moura, Dinara Jaqueline, Coitinho, Adriana Simon, Vargas, Carmen Regla

المساهمون: Congreso Latinoamericano de Errores innatos del Metabolismo y Pesquisa Neonatal (11. : 2019 : Buenos Aires, Argentina)

مصطلحات موضوعية: Farmácia, Medicina

وصف الملف: application/pdf

العلاقة: Journal of Inborn Errors of Metabolism and Screening. Porto Alegre : Scielo; http://hdl.handle.net/10183/197267Test; 001095320

الإتاحة: http://hdl.handle.net/10183/197267Test

المؤلفون: Deon, Marion^1,2 (AUTHOR) marion_deon@yahoo.com.br, Guerreiro, Gilian^1,2 (AUTHOR), Girardi, Julia³ (AUTHOR), Ribas, Graziela² (AUTHOR), Vargas, Carmen Regla^1,2,4,5 (AUTHOR) crvargas@hcpa.edu.br

المصدر: International Journal of Developmental Neuroscience. Oct2023, Vol. 83 Issue 6, p489-504. 16p.

مصطلحات موضوعية: *URINALYSIS, *LIVER transplantation, *INBORN errors of metabolism, *ESSENTIAL amino acids, *HIGH-calorie diet

المؤلفون: Faverzani, Jéssica Lamberty, Hammerschmidt, Tatiane Grazieli, Mescka, Caroline Paula, Guerreiro, Gilian, Lopes, Franciele Fatima, Delgado, Camila Aguilar, de Moura Coelho, Daniella, Sitta, Angela, Deon, Marion, Wajner, Moacir, Vargas, Carmen Regla

المصدر: Cell Biochemistry and Function ; volume 41, issue 4, page 490-500 ; ISSN 0263-6484 1099-0844

الإتاحة: https://doi.org/10.1002/cbf.3800Test

المؤلفون: Faverzani, Jéssica Lamberty, Guerreiro, Gilian, Hammerschmidt, Tatiane Grazieli, Lopes, Franciele Fátima, Coelho, Daniella de Moura, Sitta, Angela, Mescka, Caroline Paula, Deon, Marion, Wajner, Moacir, Vargas, Carmen Regla

المساهمون: Coordenação de Aperfeiçoamento de Pessoal de Nível Superior, Conselho Nacional de Desenvolvimento Científico e Tecnológico

المصدر: Archives of Biochemistry and Biophysics ; volume 749, page 109792 ; ISSN 0003-9861

مصطلحات موضوعية: Molecular Biology, Biochemistry, Biophysics

الإتاحة: https://doi.org/10.1016/j.abb.2023.109792Test
https://api.elsevier.com/content/article/PII:S0003986123002916?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0003986123002916?httpAccept=text/plainTest

المؤلفون: Guerreiro, Gilian, Deon, Marion, Vargas, Carmen Regla

المصدر: Biochemistry and Cell Biology ; volume 101, issue 4, page 294-302 ; ISSN 0829-8211 1208-6002

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1139/bcb-2022-0330Test