Results 31 to 40 of about 57,006,697 (123)
Revista Enfermagem UERJ, 2020 Objetivo: investigar o conhecimento e práticas da equipe de enfermagem em relação ao cuidado à criança com Doença de Pompe em terapia intensiva. Método: trata-se de um estudo descritivo com abordagem qualitativa.
Thaysi Carnet Figueiredo +5 more
doaj +3 more sources
Enfermedad de Pompe: una lección por aprender
Archivos De Cardiologia De MexicoJuan E Calderon-Colmenero
exaly +3 more sources
Revisión sistemática de la enfermedad de pompe o glucogenosis tipo ii mediante análisis de artículos científicos [PDF]
, 2020 La enfermedad de Pompe o glucogenosis tipo II, también llamada déficit de maltasa ácida es una enfermedad que afecta principalmente los músculos, corazón, sistema nervioso central (SNC) por déficit de la enzima alfa-1-4.glucosidasa.
Rueda Araujo, Anadalay +4 more
core +1 more source
Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain
Developmental Medicine &Child Neurology, Volume 60, Issue 6, Page 579-586, June 2018., 2018 Aim To examine the long‐term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement therapy. Method Using neuropsychological tests and brain magnetic resonance imaging (MRI), we prospectively assessed a cohort of 11 classic infantile Pompe patients aged up to 17 years.
Berendine J Ebbink +9 more
wiley +1 more source
Newborn Screening for Pompe Disease [PDF]
, 2021 Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment.
core +1 more source
Revisión sistemática de las escalas utilizadas para evaluación funcional en la enfermedad de Pompe [PDF]
, 2012 OBJETIVO: Identificar as escalas utilizadas para avaliação funcional na doença de Pompe (DP) e descrever seu nível de evidência e recomendação. FONTES DE DADOS: Revisão sistemática sobre as escalas de avaliação funcional na DP.
Silva, Rosângela Maria da +17 more
core +1 more source
Clinical guidelines for late-onset Pompe disease [PDF]
, 2012 English version available at www.neurologia.comHasta 2006, la enfermedad de Pompe o glucogenosis tipo II era una enfermedad incurable y con tratamiento meramente paliativo.
Illa, Isabel +12 more
core +1 more source
Revista Colombiana de Medicina Física y RehabilitaciónIntroducción. La enfermedad de Pompe es una enfermedad genética rara y progresiva que provoca debilidad muscular severa. Según la edad de inicio, se clasifica en enfermedad de Pompe infantil y enfermedad de Pompe de inicio tardío. En esta última, que se
Sandra Milena Castellar Leones +5 more
doaj +1 more source
Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease
Neurología (English Edition)Pompe disease or glycogenosis type II is a rare disease caused by mutations in the GAA gene that leads to deficiency of the acid alpha-1,4-glucosidase enzyme.
C. Domínguez-González +21 more
doaj +1 more source
Doctor, ¿tiene cinco minutos? - Sección a Cargo de Miriam Tonietti y Bettina Viola
Revista del Hospital de Niños, 2023 * In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease * Personality Disorders * Obesity and Overweight Among Children With Medical Complexity * Choosing Wisely internationally – helpful recommendations for antimicrobial stewardship!
Bettina Viola, Miriam Tonietti
doaj +2 more sources