Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Louise L. C. Pinto"'
Autor:
Louise L. C. Pinto, Ida V. D. Schwartz, Ana C. S. Puga, Taiane A. Vieira, Maria Verônica R. Munoz, Roberto Giugliani
Publikováno v:
Jornal de Pediatria, Vol 82, Iss 4, Pp 273-278 (2006)
OBJETIVO: Avaliar a progressão da mucopolissacaridose II, durante um período de 12 meses, em 11 pacientes brasileiros. MÉTODOS: Onze pacientes brasileiros com mucopolissacaridose II foram avaliados prospectivamente no Serviço de Genética Médica
Externí odkaz:
https://doaj.org/article/b9cc90956fdb4ddbaa5ba95793207087
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:
Louise L. C. Pinto, Ida V. D. Schwartz, Ana C. S. Puga, Taiane A. Vieira, Maria Verônica R. Munoz, Roberto Giugliani, Grupo de Estudos sobre MPS II
Publikováno v:
Jornal de pediatria. 82(4)
OBJECTIVE To assess the progression of mucopolysaccharidosis II in 11 Brazilian patients over a 12-month period. METHODS Eleven Brazilian patients with mucopolysaccharidosis II were prospectively studied at the Division of Medical Genetics of Hospita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8052f1aeec3b106bfc3d926ab81b2adb
https://pubmed.ncbi.nlm.nih.gov/16912829
https://pubmed.ncbi.nlm.nih.gov/16912829
Publikováno v:
Jornal de pediatria. 78(6)
To report a case of a patient diagnosed with Wolfram Syndrome and brachydactyly type E. Wolfram Syndrome is characterized by the presence of diabetes mellitus, diabetes insipidus, atrophy of the optic nerve, alterations of the urinary tract, deafness
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::beada674389c41f0b14c54d736e480b9
https://pubmed.ncbi.nlm.nih.gov/14647736
https://pubmed.ncbi.nlm.nih.gov/14647736
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