المؤلفون: Tássia Tonon, Chenia Martinez, Tatiele Nalin, Soraia Poloni, Otávio Bejzman Piltcher, François Maillot, Bianca Fasolo Franceschetto, Ida Vanessa D. Schwartz

المصدر: JIMD Reports, Vol 65, Iss 6, Pp 426-432 (2024)

مصطلحات موضوعية: gustation, inborn errors of metabolism, olfaction, phenylketonuria, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/d8a6a36b9d5a46dfa3751910ddda52d4

المؤلفون: Vaneisse C. L. Monteiro, Bibiana M. de Oliveira, Bruna B. dos Santos, Fernanda Sperb-Ludwig, Lilia F. Refosco, Tatiele Nalin, Terry G. J. Derks, Carolina F. Moura de Souza, Ida V. D. Schwartz

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Inborn errors of metabolism, Hepatic glycogen storage disease, Treatment strategies, Cornstarch, Sweet manioc starch, Dietary treatment, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/dca94da94d5f4fccb400079ba8306451

المؤلفون: Roberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, José Francisco da Silva Franco, Liane de Rosso Giuliani, Carlos Henrique Paiva Grangeiro, Dafne Dain Gandelman Horovitz, Chong Ae Kim, Emilia Katiane Embiruçu de Araújo Leão, Paula Frassinetti Vasconcelos de Medeiros, Diego Santana Chaves Geraldo Miguel, Maria Espírito Santo Almeida Moreira, Helena Maria Guimarães Pimentel dos Santos, Luiz Carlos Santana da Silva, Luiz Roberto da Silva, Isabel Neves de Souza, Tatiele Nalin, Daniel Garcia

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Mucopolysaccharidosis type VII, Sly disease, Lysosomal storage disorder, Glycosaminoglycans, Beta-glucuronidase deficiency, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/fe807eda91c44bb690419f9711fa3e6f

المؤلفون: Matheus V. M. B. Wilke, Alícia D. Dornelles, Artur S. Schuh, Filippo P. Vairo, Suelen P. Basgalupp, Marina Siebert, Tatiele Nalin, Otavio B. Piltcher, Ida V. D. Schwartz

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: Gaucher disease, Parkinson’s disease, Non-motor symptoms, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1079-4; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/33d5755ce4cc442eb69138e4d7c50e24

المؤلفون: Vitória S. Zizemer, Tatiele Nalin, Ida Vanessa D. Schwartz, Ana Paula Vanz

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/e1a5abe1b7964944aa1f9445e14a5814

المؤلفون: Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Malu Bettio Soares, Tatiele Nalin, Erlane Marques Ribeiro, Carlos Eduardo Steiner, Eugênia Ribeiro Valadares, Gilda Porta, Carolina Fishinger Moura de Souza, Ida Vanessa Doederlein Schwartz

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)

مصطلحات موضوعية: glycogen storage disease, hepatic GSD, molecular diagnosis, next‐generation sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/4e489ba45dbe4672ad5b584d02073b30

المؤلفون: Priscila Nicolao Mazzola, Tatiele Nalin, Kamila Castro, Margreet van Rijn, Terry G.J. Derks, Ingrid D.S. Perry, Alberto Scofano Mainieri, Ida Vanessa D. Schwartz

المصدر: Molecular Genetics and Metabolism Reports, Vol 6, Iss C, Pp 16-20 (2016)

مصطلحات موضوعية: Inborn errors of metabolism, Phenylketonuria, Nutritional status, Body composition, Bioelectrical impedance, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426915300598; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/9e0f45a282b04820ab77cf1680bd15fd

المؤلفون: Berenice L. Santos, Carolina F.M. de Souza, Lavinia Schuler-Faccini, Lilia Refosco, Matias Epifanio, Tatiele Nalin, Sandra M.G. Vieira, Ida V.D. Schwartz

المصدر: Jornal de Pediatria, Vol 90, Iss 6, Pp 572-579 (2014)

مصطلحات موضوعية: Erros inatos do metabolismo, Doença de depósito de glicogênio tipo I, Aspectos clínicos, Diagnósticos, Estado nutricional, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572014000600572&lng=en&tlng=en; https://doaj.org/toc/1678-4782

URL الوصول: https://doaj.org/article/0cab01d7aded4c8a8cb45a187ad9dd78

المؤلفون: Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner

المصدر: Genes, Vol 14, Iss 12, p 2219 (2023)

مصطلحات موضوعية: inherited errors of metabolism, Glycogen Storage Disease, next-generation sequencing, clinical manifestations, clinical diagnosis, expert opinion, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/14/12/2219; https://doaj.org/toc/2073-4425; https://doaj.org/article/377ea6c7f70646bfb2fcb08463331612

الاتاحة: https://doi.org/10.3390/genes14122219
https://doaj.org/article/377ea6c7f70646bfb2fcb08463331612

المؤلفون: Jésica Tamara Jacoby, Bruna Bento dos Santos, Tatiele Nalin, Karina Colonetti, Lília Farret Refosco, Carolina F. M. de Souza, Poli Mara Spritzer, Soraia Poloni, Roberta Hack-Mendes, Ida Vanessa Doederlein Schwartz

المصدر: Nutrients; Volume 13; Issue 9; Pages: 2987

مصطلحات موضوعية: glycogen storage disease, bone mineral density, GSD, bone, osteocalcin, photon absorptiometry

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Nutrition and Metabolism; https://dx.doi.org/10.3390/nu13092987

الاتاحة: https://doi.org/10.3390/nu13092987

المؤلفون: Raquel Stocker Pérsico, Tatiéle Nalin, Lilia Farret Refosco, Filippo Pinto e Vairo, Carolina Fischinger Moura de Souza, Bruna Bento dos Santos, Ida Vanessa Doederlein Schwartz

المصدر: Clinical and Biomedical Research, Vol 39, Iss 1 (2019)

مصطلحات موضوعية: fenilcetonúria, fenilalanina, densitometria, densidade óssea, terapia nutricional, Medicine

Relation: https://seer.ufrgs.br/hcpa/article/view/88599; https://doaj.org/toc/2357-9730; https://doaj.org/article/5787416bde3b4b079173c1c09c6fa274

الاتاحة: https://doaj.org/article/5787416bde3b4b079173c1c09c6fa274

المؤلفون: Karina Colonetti, Bruna Bento Dos Santos, Tatiéle Nalin, Carolina Fischinger Moura de Souza, Eric W Triplett, Priscila Thiago Dobbler, Ida Vanessa Doederlein Schwartz, Luiz Fernando Wurdig Roesch

المصدر: PLoS ONE, Vol 14, Iss 4, p e0214582 (2019)

مصطلحات موضوعية: Medicine, Science

Relation: https://doi.org/10.1371/journal.pone.0214582; https://doaj.org/toc/1932-6203; https://doaj.org/article/93c868ae76444e608a73da7427e6843f

الاتاحة: https://doi.org/10.1371/journal.pone.0214582
https://doaj.org/article/93c868ae76444e608a73da7427e6843f

المؤلفون: Karina Colonetti, Bruna Bento Dos Santos, Tatiéle Nalin, Carolina Fischinger Moura de Souza, Eric W Triplett, Priscila Thiago Dobbler, Ida Vanessa Doederlein Schwartz, Luiz Fernando Wurdig Roesch

المصدر: PLoS ONE, Vol 14, Iss 6, p e0218254 (2019)

مصطلحات موضوعية: Medicine, Science

Relation: https://doi.org/10.1371/journal.pone.0218254; https://doaj.org/toc/1932-6203; https://doaj.org/article/5be33a1936b14904ac944f3731c613c6

الاتاحة: https://doi.org/10.1371/journal.pone.0218254
https://doaj.org/article/5be33a1936b14904ac944f3731c613c6

المؤلفون: Tássia Tonon, Elisa Sisti, Tatiéle Nalin, Ida Vanessa Doederlein Schwartz

المصدر: Clinical and Biomedical Research, Vol 38, Iss 2 (2018)

مصطلحات موضوعية: Triagem Neonatal, Saúde Pública, Programas de Rastreamento, Medicine

Relation: http://seer.ufrgs.br/hcpa/article/view/74929; https://doaj.org/toc/0101-5575; https://doaj.org/toc/2357-9730; https://doaj.org/article/08c90d1468f74f0ba7d57ed688a67350

الاتاحة: https://doaj.org/article/08c90d1468f74f0ba7d57ed688a67350

المؤلفون: Bruna B. dos Santos MSc, Tatiéle Nalin PhD, Kamila C. Grokoski MSc, Ingrid D. S. Perry PhD, Lilia F. Refosco MSc, Filippo P. Vairo PhD, Carolina F. M. Souza PhD, Ida V. D. Schwartz PhD

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)

مصطلحات موضوعية: Medicine (General), R5-920

Relation: https://doi.org/10.1177/2326409817733014; https://doaj.org/toc/2326-4594; https://doaj.org/article/89a442e36a154a08a0a437b4a2c82d19

الاتاحة: https://doi.org/10.1177/2326409817733014
https://doaj.org/article/89a442e36a154a08a0a437b4a2c82d19

المؤلفون: Tatiane Alves Vieira, Tatiéle Nalin, Bárbara Correa Krug, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Ida Vanessa Doederlein Schwartz

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 3 (2015)

مصطلحات موضوعية: Medicine (General), R5-920

Relation: https://doi.org/10.1177/2326409815579861; https://doaj.org/toc/2326-4594; https://doaj.org/article/9499c25a43b243db8bce005fb204f366

الاتاحة: https://doi.org/10.1177/2326409815579861
https://doaj.org/article/9499c25a43b243db8bce005fb204f366

المؤلفون: Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler-Faccini, Carolina Fischinger Moura de Souza

المصدر: Jornal de Pediatria, Vol 91, Iss 3, Pp 292-298 (2015)

مصطلحات موضوعية: Doença da urina de xarope de bordo, DXB, Erros inatos do metabolismo, Diagnóstico, Pediatrics, RJ1-570

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000300292&lng=en&tlng=en; https://doaj.org/toc/1678-4782; https://doaj.org/article/182279fe898340ecb5cbe3d47cc05324

الاتاحة: https://doi.org/10.1016/j.jped.2014.08.010
https://doaj.org/article/182279fe898340ecb5cbe3d47cc05324

المؤلفون: Luciana Giugliani, Angela Sitta, Carmen R Vargas, Luiz C Santana-da-Silva, Tatiéle Nalin, Maria Luiza Saraiva-Pereira, Roberto Giugliani, Ida Vanessa D Schwartz

المصدر: Jornal de Pediatria, Vol 87, Iss 3, Pp 245-251 (2011)

مصطلحات موضوعية: Fenilcetonúrias, fenilalanina hidroxilase, biopterina, Pediatrics, RJ1-570

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572011000300011&lng=en&tlng=en; https://doaj.org/toc/1678-4782; https://doaj.org/article/438c88bc962b430e9d54d60d1499bb84

الاتاحة: https://doi.org/10.1590/S0021-75572011000300011
https://doaj.org/article/438c88bc962b430e9d54d60d1499bb84

المؤلفون: Taiane Alves Vieira, Tatiéle Nalin, Silvia Brustolin Pitt, Nadia Frizzo, Márcia Santana Fernandes, Nadine de Oliveira Clausell, José Roberto Goldim

المصدر: Clinical and Biomedical Research, Vol 31, Iss 3 (2011)

مصطلحات موضوعية: Termo de Consentimento, Processo de Consentimento, Pesquisa em Seres Humanos, Medicine

Relation: https://seer.ufrgs.br/index.php/hcpa/article/view/23895; https://doaj.org/toc/2357-9730; https://doaj.org/article/4bc9771bb6634e7688019a449b7fc5f3

الاتاحة: https://doaj.org/article/4bc9771bb6634e7688019a449b7fc5f3

المؤلفون: Tatiéle Nalin, Ingrid Perry, Lilia Refosco, Cristina Netto, Carolina Souza, Tatiane Vieira, Paulo Picon, Ida Schwartz

المصدر: Clinical and Biomedical Research, Vol 30, Iss 3 (2010)

مصطلحات موضوعية: Fenilcetonúria, Erros Inatos do Metabolismo, Medicine

Relation: https://seer.ufrgs.br/index.php/hcpa/article/view/15435; https://doaj.org/toc/2357-9730; https://doaj.org/article/d4d0896e18ab48e0b96cc8eb5c19716f

الاتاحة: https://doaj.org/article/d4d0896e18ab48e0b96cc8eb5c19716f