Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Fernanda Alves Thomaz Fernandes"'
Autor:
Marta Liliane de Almeida Maia, Maria Luiza Dautro Moreira do Val, Camila Penteado Genzani, Fernanda Alves Thomaz Fernandes, Maria Cristina de Andrade, João Tomás de Abreu Carvalhaes
Publikováno v:
Brazilian Journal of Nephrology, Vol 32, Iss 2, Pp 216-222 (2010)
INTRODUÇÃO: A síndrome de Lowe, ou distrofia oculocerebrorrenal (OCRL), tem herança recessiva ligada ao cromossomo X. Apresenta-se com catarata, glaucoma, atraso no desenvolvimento neuropsicomotor (DNPM), déficit cognitivo e síndrome de Fanconi
Externí odkaz:
https://doaj.org/article/7e5e8918ac3942db9093a94d88adcef7
Autor:
Maria Luiza Dautro Moreira do Val, Marta Liliane de Almeida Maia, Maria Cristina de Andrade, Camila Penteado Genzani, João Tomás de Abreu Carvalhaes, Fernanda Alves Thomaz Fernandes
Publikováno v:
Jornal Brasileiro de Nefrologia. 32:216-222
INTRODUCTION: Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL), has a recessive inheritance linked to X chromosome. It presents cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal Fanconi syndrome. OBJECTI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf5769f6f245eeecdeafad942bbe0800
https://doi.org/10.1590/s0101-28002010000200011
https://doi.org/10.1590/s0101-28002010000200011
Autor:
Marta Liliane de Almeida, Maia, Maria Luiza Dautro Moreira, do Val, Camila Penteado, Genzani, Fernanda Alves Thomaz, Fernandes, Maria Cristina, de Andrade, João Tomás de Abreu, Carvalhaes
Publikováno v:
Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia. 32(2)
Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL), has a recessive inheritance linked to X chromosome. It presents cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal Fanconi syndrome.Describe five patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::04259c9c3288b29b143e22ddeadf8b16
https://pubmed.ncbi.nlm.nih.gov/21103682
https://pubmed.ncbi.nlm.nih.gov/21103682