Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Rosángela Tomasini"'
Autor:
Laura Sayol-Torres, Maria Irene Valenzuela, Rosangela Tomasini, Paula Fernández-Alvarez, Maria Clemente, Diego Yeste
Publikováno v:
JCRPE, Vol 15, Iss 2, Pp 205-209 (2023)
Prolyl endopeptidase-like (PREPL) deficiency (MIM#616224) is a rare congenital disorder characterised by neonatal hypotonia and feeding difficulties, growth hormone (GH) deficiency and hypergonadotropic hypogonadism. This syndrome is an autosomal rec
Externí odkaz:
https://doaj.org/article/7e18fdb07cae4a0da05561f2a4cec455
Autor:
Titania Pasqualini, Guillermo Alonso, Rosángela Tomasini, Ana María Galich, Noemí Buzzalino, Cecilia Fernández, Carolina Minutolo, Liliana Alba, Liliana Dain
Publikováno v:
Medicina (Buenos Aires), Vol 67, Iss 3, Pp 253-261 (2007)
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disorder which can adopt three clinical expressions: two classical forms -salt-wasting (SW), with residual enzymatic activity (EA) < 1% and simple virilizing (SV), with EA 1-2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::c1b2fdb1ec806513af4717238c34730c
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802007000300006
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802007000300006