Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Carolina F M, De Souza"'
Autor:
Tatiéle Nalin, Fernanda Sperb-Ludwig, Marina Siebert, Gustavo Mottin Rizowy, David A. Weinstein, Terry G. J. Derks, Carolina F. M. de Souza, Ida V. D. Schwartz
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)
Abstract Hepatic glycogen storage diseases (GSD) are characterized by recurrent episodes of hypoglycemia, and anemia has been recognized as a frequent complication of these disorders.This was a convenience cross-sectional study to evaluate hepcidin a
Externí odkaz:
https://doaj.org/article/ce099c1370144a2d9ceefed56e3ec05f
Autor:
Amauri Dalla Corte, Carolina F. M. de Souza, Maurício Anés, Fabio K. Maeda, Armelle Lokossou, Leonardo M. Vedolin, Maria Gabriela Longo, Monica M. Ferreira, Solanger G. P. Perrone, Olivier Balédent, Roberto Giugliani
Publikováno v:
Fluids and Barriers of the CNS, Vol 14, Iss 1, Pp 1-12 (2017)
Abstract Background Very little is known about the incidence and prevalence of hydrocephalus in patients with mucopolysaccharidoses (MPS). The biggest challenge is to distinguish communicating hydrocephalus from ventricular dilatation secondary to br
Externí odkaz:
https://doaj.org/article/58c4bdbf8b484bfbaa90a66f2334d0e2
Autor:
Soraia Poloni PhD, Giovana W. Hoss MD, Fernanda Sperb-Ludwig PhD, Taciane Borsatto PhD, Maria Juliana R. Doriqui MD, Emília K.E.A Leão PhD, Ney Boa-Sorte PhD, Charles M. Lourenço PhD, Chong A. Kim PhD, Carolina F. M. de Souza PhD, Helio Rocha MD, Marcia Ribeiro PhD, Carlos E. Steiner PhD, Carolina A. Moreno PhD, Pricila Bernardi MD, Eugenia Valadares PhD, Osvaldo Artigalas MD, Gerson Carvalho MD, Hector Y. C. Wanderley MD, Vânia D’Almeida PhD, Luiz C. Santana-da-Silva PhD, Henk J. Blom PhD, Ida V. D. Schwartz PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)
This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Sou
Externí odkaz:
https://doaj.org/article/8f5b2a71a5294f6ab3e01d69f4619060
Autor:
Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz
Publikováno v:
PLoS ONE, Vol 12, Iss 5, p e0177503 (2017)
INTRODUCTION:The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype a
Externí odkaz:
https://doaj.org/article/971485840da94fc49f57616cfc9988c5
Autor:
Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz
Publikováno v:
PLoS ONE, Vol 12, Iss 6, p e0180463 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0177503.].
Externí odkaz:
https://doaj.org/article/a4bb795841914138bf0f3b3998175bbf
Autor:
Amauri Dalla Corte, Carolina F. M. de Souza, Maurício Anés, Fabio K. Maeda, Armelle Lokossou, Leonardo M. Vedolin, Maria Gabriela Longo, Monica M. Ferreira, Solanger G. P. Perrone, Olivier Balédent, Roberto Giugliani
Publikováno v:
Fluids and Barriers of the CNS, Vol 14, Iss 1, Pp 1-1 (2017)
After publication of the article [1], it has been brought to our attention that the full funding acknowledgement is missing from the original article.
Externí odkaz:
https://doaj.org/article/6ec205c0611748df912d6cabc6f6367b
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 58, Iss 3A, Pp 597-606 (2000)
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood. Three main childhood forms can be established on the basis of age of onset, clinical course, and ul
Externí odkaz:
https://doaj.org/article/129f2f4031a24dd897252eafbec66afb
Publikováno v:
Pediatric clinics of North America. 65(2)
Although hyperinsulinism is the predominant inherited cause of hypoglycemia in the newborn period, inborn errors of metabolism are the primary etiologies after 1 month of age. Disorders of carbohydrate metabolism often present with hypoglycemia when
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9ad79047233a43c2d736f42c256504d3
https://pubmed.ncbi.nlm.nih.gov/29502912
https://pubmed.ncbi.nlm.nih.gov/29502912
Autor:
Gideon Koren, Beth Conover, Teresa Mazzone, Carolina F. M. De Souza, Doren Matsui, Cinzia Paolini, Hanneke Garbis, Maurizo Bonati, Melissa Lau, Amy S. Lee, Antonio Addis, Kinjal Sanghvi, Thierry Val, Pierpaolo Mastroiacovo, Benoit Bailey, Amy Stein Schechtman
Publikováno v:
Digestive Diseases and Sciences. 42:1848-1852
The objective of this prospective multicenter study was to determine whether cisapride is associated with increased risk of malformations, spontaneous abortions, or decreased birthweight when used during pregnancy. Cases were paired for age, smoking,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ffed23c1a66db2717595f2463d11908
https://doi.org/10.1023/a:1018898707449
https://doi.org/10.1023/a:1018898707449