Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Daniela Avila-Smirnow"'
Autor:
Daniela Avila-Smirnow, Audrey Boutron, María de Los Ángeles Beytía-Reyes, Oscar Contreras-Olea, Alfredo Caicedo-Feijoo, Roger Gejman-Enríquez, Raúl Escobar-Henríquez, Jorge Förster-Mujica
Publikováno v:
Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-4 (2018)
Abstract Background The myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Nati
Externí odkaz:
https://doaj.org/article/58ebe0076def48219906a1b34719a13b
Autor:
Daniela Avila-Smirnow, Pamela Céspedes, Felipe Reyes, Jenniffer Angulo, Agustín Cavagnaro, Adriana Wegner
Publikováno v:
Neuromuscular Disorders. 32:486-492
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::423f57a14a4503226903ff3e97d67cf4
https://doi.org/10.1016/j.nmd.2022.04.001
https://doi.org/10.1016/j.nmd.2022.04.001
Autor:
Carola Goecke-Hochberger, Cecilia Mellado-Sagredo, Daniela Avila-Smirnow, Rosendo Lobo-Avilés, Hana Karime Rumié-Carmi, Oscar Contreras-Olea
Publikováno v:
Revista médica de Chile v.147 n.3 2019
SciELO Chile
CONICYT Chile
instacron:CONICYT
SciELO Chile
CONICYT Chile
instacron:CONICYT
Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. It is caused by pathogenic variants in ACVR1 gene and characterized by soft tissue heterotopic ossification, starting in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5fd933bdd0fc320bd825bde887983a6
https://doi.org/10.4067/s0034-98872019000300384
https://doi.org/10.4067/s0034-98872019000300384
Autor:
Daniela Alarcón Benítez, María De los Angeles Beytía Reyes, Raúl G. Escobar, Alicia Nuñez Farías, María Eugenia López Bohner, Daniela Avila-Smirnow
Publikováno v:
Andes Pediatrica. 93:458
La hipotonía del recién nacido y del lactante es un desafío diagnóstico frecuente en la práctica pediátrica. Se define como la disminución de la resistencia al movimiento pasivo. El síndrome hipotónico es un diagnóstico de trabajo y se debe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5df88c56d8348fe9f4c222b68df70821
https://doi.org/10.32641/andespediatr.v93i4.4050
https://doi.org/10.32641/andespediatr.v93i4.4050
Autor:
Carmen Paz Vargas Leal, Raul G. Escobar, María de Los Angeles Beytía Reyes, Juan Carlos Casar Leturia, Marcela Lagos Lucero, Rocío Cortés Zepeda, Damien Sternberg, María de los Angeles Avaria Benapres, Karin Kleinsteuber Saa, Daniela Avila-Smirnow, Oslando Padilla Pérez, Cecilia Mellado Sagredo
Publikováno v:
Neuromuscular disorders : NMD. 30(7)
Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1. Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A, is a relatively less frequent but more severe form. Most reports of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3164add477101de85983ce5e447e60e1
https://pubmed.ncbi.nlm.nih.gov/32593548
https://pubmed.ncbi.nlm.nih.gov/32593548
Autor:
Arielle Salon, Jacques Ropers, Vassili Valayannopoulos, Abdellah Tebani, Stéphanie Pannier, Cyril Gitiaux, Ivana Dabaj, Daniela Avila-Smirnow, Isabelle Desguerre, Susana Quijano-Roy
Publikováno v:
Diagnostics
Volume 10
Issue 1
Volume 10
Issue 1
Introduction: Mucopolysaccharidoses (MPS) are rare and clinically heterogeneous lysosomal storage disorders. Carpal tunnel syndrome (CTS) is a frequent complication in MPS types I, II, VI, and VII. CTS symptoms are difficult to recognize in these chi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf98e330f44fbefac116c6742ae54392
http://europepmc.org/articles/PMC7169406
http://europepmc.org/articles/PMC7169406
Autor:
Oscar Contreras-Olea, Daniela Avila-Smirnow, Jorge Förster-Mujica, Audrey Boutron, Roger Gejman-Enríquez, María de Los Angeles Beytía-Reyes, Alfredo Caicedo-Feijoo, Raúl Escobar-Henríquez
Publikováno v:
Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-4 (2018)
Journal of Medical Case Reports
Journal of Medical Case Reports
Background The myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Native South
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f48994154b694ef99882bc4fd3f1625
http://link.springer.com/article/10.1186/s13256-018-1702-3
http://link.springer.com/article/10.1186/s13256-018-1702-3
Autor:
Carlos, Jaque-Almendras, Raúl G, Escobar, Alfredo, Caicedo-Feijoo, María de Los Angeles, Beytía-Reyes, Sergio, Correa-Pérez, Roger, Gejman-Enríquez, Juan Pablo, Cruz-Quiroga, Oscar, Contreras-Olea, Daniela, Avila-Smirnow
Publikováno v:
Revista chilena de pediatria. 91(1)
Sciatic neuropathy is rare and difficult to diagnose in pediatrics, and its long-term course has not been completely understood.To analyze the clinical presentation and evolution of a group of pediatric patients with sciatic neuropathy.Retrospective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cb90f8449b20c6ef0f4d1fba77b15409
https://pubmed.ncbi.nlm.nih.gov/32730417
https://pubmed.ncbi.nlm.nih.gov/32730417
Autor:
Sergio Correa-Pérez, Oscar Contreras-Olea, María de Los Angeles Beytía-Reyes, Roger Gejman-Enríquez, Juan Pablo Cruz-Quiroga, Raul G. Escobar, Daniela Avila-Smirnow, Alfredo Caicedo-Feijoo, Carlos Jaque-Almendras
Publikováno v:
Revista chilena de pediatría v.91 n.1 2020
SciELO Chile
CONICYT Chile
instacron:CONICYT
SciELO Chile
CONICYT Chile
instacron:CONICYT
Sciatic neuropathy is rare and difficult to diagnose in pediatrics, and its long-term course has not been completely understood. Objective: To analyze the clinical presentation and evolution of a group of pediatric patients with sciatic neuropathy. P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82dba30dac4299500f1256961591f35d
https://doi.org/10.32641/rchped.v91i1.1355
https://doi.org/10.32641/rchped.v91i1.1355
Autor:
Adriana Wegner-Araya, Marcela Córdova-Aguilera, Daniela Avila-Smirnow, Christián Cantillano-Malone, Manuel Arriaza-Ortiz
Publikováno v:
Revista chilena de pediatría v.91 n.1 2020
SciELO Chile
CONICYT Chile
instacron:CONICYT
SciELO Chile
CONICYT Chile
instacron:CONICYT
Resumen: Introducción: El Síndrome de Guillain-Barré (SGB) es raramente diagnosticado en lactantes menores de 1 año. Su asociación con el Síndrome de Wiskott Aldrich (SWA), es aún menos frecuente, y ha sido previa mente reportada sólo en dos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d51d21ddc8cfe8c9520b829d0f44aef4
https://doi.org/10.32641/rchped.v91i1.1208
https://doi.org/10.32641/rchped.v91i1.1208