نتائج البحث - "Valadares, Eugenia Ribeiro"

1

دورية أكاديمية

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

المصدر: Genetics in Medicine ; volume 23, issue 4, page 637-644 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-020-01031-7Test
http://www.nature.com/articles/s41436-020-01031-7.pdfTest
http://www.nature.com/articles/s41436-020-01031-7Test
https://api.elsevier.com/content/article/PII:S1098360021024503?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021024503?httpAccept=text/plainTest

View record in BASE

2

دورية أكاديمية

Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients

المصدر: http://ref.scielo.org/k3jwsfTest.

مصطلحات موضوعية: Classical homocystinuria, CBS deficiency, Homocysteine, Pyridoxine responsiveness, Diagnosis

وصف الملف: application/pdf

العلاقة: Journal of Inborn Errors of Metabolism & Screening; POLONI, Soraia et al. Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients. Journal of Inborn Errors of Metabolism and Screening, Porto Alegre, v. 6, e180007, 2018. DOI: http://dx.doi.org/10.1177/2326409818788900Test. Disponível em: http://repositorio.ufpa.br/jspui/handle/2011/10788Test. Acesso em:.; http://repositorio.ufpa.br/jspui/handle/2011/10788Test; http://dx.doi.org/10.1177/2326409818788900Test

الإتاحة: https://doi.org/10.1177/2326409818788900Test
http://repositorio.ufpa.br/jspui/handle/2011/10788Test

View record in BASE

3

دورية أكاديمية

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

المصدر: The American Journal of Human Genetics ; volume 105, issue 4, page 836-843 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.08.008Test
https://api.elsevier.com/content/article/PII:S000292971930312X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292971930312X?httpAccept=text/plainTest

View record in BASE

4

دورية أكاديمية

Neuropsychiatric and Sleep Study in Autosomal Dominant Dopa-Responsive Dystonia

المؤلفون: Alves Júnior, Ailton Cezário, Daker, Maurício Viotti, Machado, Alexei Manso Correa, Luna, Alan Saiter, Valladares Neto, Dirceu Campos, Valadares, Eugenia Ribeiro

المصدر: SSRN Electronic Journal ; ISSN 1556-5068

الإتاحة: https://doi.org/10.2139/ssrn.4044366Test

View record in BASE

5

دورية أكاديمية

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

المؤلفون: DORNELLES, Alicia Dorneles, PINTO, Louise Lapagesse de Carmargo, PAULA, Ana Carolina de, STEINER, Carlos Eduardo, LOURENÇO, Charles Marques, KIM, Chong Ae, HOROVITZ, Dafne Dain Gandelman, RIBEIRO, Erlane Marques, VALADARES, Eugênia Ribeiro, GOULART, Isabela, SOUZA, Isabel Cristina Neves de, NERI, João Ivanildo da Costa Ferreira, SILVA, Luiz Carlos Santana da, SILVA, Luiz Roberto, RIBEIRO, Márcia Gonçalves, OLIVEIRA SOBRINHO, Ruy Pires de, GIUGLIANI, Roberto, SCHWARTZ, Ida Vanessa Doederlein

مصطلحات موضوعية: Terapia de reposição enzimática, Laronidase, Mucopolissacaridose tipo 1, Alph-L-eduronidase

وصف الملف: application/pdf

العلاقة: DORNELLES, Alícia Dorneles et al. Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network. Genetics and Molecular Biology, Ribeirão Preto, v. 37, n. 1, p. 23-29, 2014. Disponível em: . Acesso em: 25 ago. 2015. .; http://repositorio.ufpa.br/jspui/handle/2011/6868Test

الإتاحة: https://doi.org/10.1590/S1415-47572014000100006Test
http://repositorio.ufpa.br/jspui/handle/2011/6868Test

View record in BASE

النص الكامل

6

دورية أكاديمية

Hereditary fructose intolerance in Brazilian patients

المؤلفون: Valadares, Eugênia Ribeiro, Cruz, Ana Facury da, Adelino, Talita Emile Ribeiro, Kanufre, Viviane de Cássia, Ribeiro, Maria do Carmo, Penido, Maria Goretti Moreira Guimarães, Peret Filho, Luciano Amedee, Valadares, Laís Maria Santos Valadares e

المصدر: Molecular Genetics and Metabolism Reports ; volume 4, page 35-38 ; ISSN 2214-4269

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.ymgmr.2015.05.007Test
https://api.elsevier.com/content/article/PII:S2214426915300148?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426915300148?httpAccept=text/plainTest

View record in BASE

7

مؤتمر

Perfil clínico e bioquímico de uma amostra de pacientes brasileiros com homocistinúria clássica

المؤلفون: Poloni, Soraia, Borsatto, Taciane, Souza, Carolina Fischinger Moura de, Bernardi, Pricila, Lourenço, Charles Marques, Doriqui, Maria Juliana Rodovalho, Valadares, Eugênia Ribeiro, Toralles, Maria Betânia Pereira

المساهمون: Schwartz, Ida Vanessa Doederlein, Hospital de Clínicas de Porto Alegre. Semana Científica. (33. : 2013 : Porto Alegre, RS)

مصطلحات موضوعية: Genética, Medicina

وصف الملف: application/pdf

العلاقة: Revista HCPA. Porto Alegre; http://hdl.handle.net/10183/119499Test; 000899639

الإتاحة: http://hdl.handle.net/10183/119499Test

View record in BASE

8

دورية أكاديمية

Mother's sense of coherence and dental characteristics in children and adolescents with osteogenesis imperfecta: A paired study

المؤلفون: Teixeira, Suélen Alves, Santos, Paula Carolina Mendes, Carneiro, Túlio Canella Bezerra, Paiva, Saul Martins, Valadares, Eugênia Ribeiro, Borges‐Oliveira, Ana Cristina

المساهمون: Conselho Nacional de Desenvolvimento Científico e Tecnológico, Fundação de Amparo à Pesquisa do Estado de Minas Gerais, Pró-Reitoria de Pesquisa, Universidade Federal de Minas Gerais, Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

المصدر: Special Care in Dentistry ; volume 41, issue 2, page 170-177 ; ISSN 0275-1879 1754-4505

الإتاحة: https://doi.org/10.1111/scd.12560Test

View record in BASE