Now showing items 1-5 of 5

    • Román Urrestarazu, Andrés; Yáñez, Carolina; López Gari, Claudia; Elgueta, Constanza; Allison, Carrie; Brayne, Carol; Troncoso, Mónica; Barón Cohen, Simón (Sage, 2020)
      Diagnosis of Autism Spectrum Conditions (ASC) can be an extended procedure since ASC tend to both vary greatly across individual symptoms and diagnostic pathways with serious challenges to opportune access and diagnosis ...
    • Troncoso, Mónica; Balut Oyarzún, Fernanda; Witting Enríquez, Scarlet; Rubilar Parra, Carla; Carrera, Jorge; Cartes, Fabiola; Herrera Cisterna, Luisa (Wiley, 2021)
      It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy.
    • Tello, Javiera; Ruiz, Isadora; Herrera, Luisa; Miranda, Ana; Alid, Paulina; Troncoso, Mónica (American Academy of Neurology, 2019)
      Monocular nystagmus is a rare condition that occurs in limited number of disorders, such as spasmus nutans, multiple sclerosis, and alternating hemiplegia of childhood (AHC).1 AHC is a neurodevelopmental disorder ...
    • Hidalgo, María José; Muñoz, Daniela; Balut Oyarzún, Javiera; Troncoso, Mónica; Lara, Susana; Barrios, Andrés; Parra, Patricia (Sage Publications, 2018-05-29)
      Stroke is an important cause of morbidity and mortality in children. Clinical presentation is diverse, and multiple risk factors have been described. The aim of this retrospective study is to describe the clinical presentation, ...
    • Lourenco, Charles M.; Pessoa, Andre; Mendes, Carmen C.; Rivera Nieto, Carolina; Vergara, Diane; Troncoso, Mónica; Gardner, Emily; Mallorens, Francisca; Tavera, Lina; Lizcano, Luis A.; Atanacio, Nora; Guelbert, Norberto; Specola, Norma; Mancilla, Nury; De Souza, Carolina F. M.; Mole, Sara E (Wiley, 2020)
      Aim: Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder caused by deficient tripeptidyl peptidase 1 (TPP1) enzyme, leading to progressive ...