Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Aurea Vera-Loaiza"'
Autor:
Israel E. Crisanto-López, Alan A. Pérez-Arzola, Yazmin Hernández-Castañeda, Reyna G. Carrasco-Trinidad, Aurea Vera-Loaiza, Berenice Jiménez-Pérez, Tania A. Guzmán-Santiago, Pablo O. Rodríguez-Hurtado, Wilbert Salazar-Bonilla, Daniela Juárez-Melchor
Publikováno v:
Boletín Médico del Hospital Infantil de México, Vol 81, Iss 4 (2024)
Background: Activated phosphoinositide 3-kinase delta syndrome (APDS) [OMIM 615513] is an inborn error of immunity with autosomal dominant inheritance caused by a pathogenic variant in the PIK3CD gene. The prevalence ratio of APDS is < 1: 1,000,000 n
Externí odkaz:
https://doaj.org/article/4ebffd104bd043748bbf63f5fb7f3c86
Autor:
Raul E. Piña-Aguilar, Aurea Vera-Loaiza, Oscar F. Chacón-Camacho, Juan Carlos Zenteno, Lilia Nuñez-Orozco, Yuritzi Santillán-Hernández
Publikováno v:
Case Reports in Neurological Medicine, Vol 2014 (2014)
Niemann-Pick type C disease (NPC) is a rare lysosomal disease with a protean presentation, ranging from a fatal neonatal course with visceromegaly to an adult presentation with only neurological or psychiatric symptomatology. In this report we descri
Externí odkaz:
https://doaj.org/article/90de199238d044718e94fdcb0d830575
Autor:
Aurea Vera-Loaiza, Kendrick Goss, María Teresa Gorráez-de la Mora, Raul E. Piña-Aguilar, Yuritzi Santillán-Hernández, Winnie W Xin, Enory Almanza-Miranda
Lysosomal acid lipase (LAL) deficiency is an under-recognized lysosomal disease caused by deficient enzymatic activity of LAL. In this report we describe two affected female Mexican siblings with early hepatic complications. At two months of age, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d73b260b555bbaa8f7ad70570fc4597e
https://europepmc.org/articles/PMC4299316/
https://europepmc.org/articles/PMC4299316/
Autor:
Aurea Vera-Loaiza, Yuritzi Santillán-Hernández, Oscar F. Chacon-Camacho, Lilia Núñez-Orozco, Raul E. Piña-Aguilar, Juan Carlos Zenteno
Publikováno v:
Case Reports in Neurological Medicine
Case Reports in Neurological Medicine, Vol 2014 (2014)
Case Reports in Neurological Medicine, Vol 2014 (2014)
Niemann-Pick type C disease (NPC) is a rare lysosomal disease with a protean presentation, ranging from a fatal neonatal course with visceromegaly to an adult presentation with only neurological or psychiatric symptomatology. In this report we descri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5626403f5ea4e976f986bcbe1294d5b1
http://europepmc.org/articles/PMC4202276
http://europepmc.org/articles/PMC4202276
Autor:
Santillán-Hernández Y; Yuritzi Santillán-Hernández, Aurea Vera-Loaiza, Medical Genetics Department, Centro Médico Nacional '20 de Noviembre', ISSSTE, México City 03100, México., Almanza-Miranda E; Yuritzi Santillán-Hernández, Aurea Vera-Loaiza, Medical Genetics Department, Centro Médico Nacional '20 de Noviembre', ISSSTE, México City 03100, México., Xin WW; Yuritzi Santillán-Hernández, Aurea Vera-Loaiza, Medical Genetics Department, Centro Médico Nacional '20 de Noviembre', ISSSTE, México City 03100, México., Goss K; Yuritzi Santillán-Hernández, Aurea Vera-Loaiza, Medical Genetics Department, Centro Médico Nacional '20 de Noviembre', ISSSTE, México City 03100, México., Vera-Loaiza A; Yuritzi Santillán-Hernández, Aurea Vera-Loaiza, Medical Genetics Department, Centro Médico Nacional '20 de Noviembre', ISSSTE, México City 03100, México., Gorráez-de la Mora MT; Yuritzi Santillán-Hernández, Aurea Vera-Loaiza, Medical Genetics Department, Centro Médico Nacional '20 de Noviembre', ISSSTE, México City 03100, México., Piña-Aguilar RE; Yuritzi Santillán-Hernández, Aurea Vera-Loaiza, Medical Genetics Department, Centro Médico Nacional '20 de Noviembre', ISSSTE, México City 03100, México.
Publikováno v:
World journal of gastroenterology [World J Gastroenterol] 2015 Jan 21; Vol. 21 (3), pp. 1001-8.