Results 51 to 60 of about 652 (93)
[Fatal outcome of COVID-19 disease in a 5-month infant with comorbidities]. [PDF]
Rev Esp Cardiol, 2020 Climent FJ +5 more
europepmc +1 more source
Algunos desafíos en mucopolisacaridosis tipo I
Archivos Argentinos de Pediatria, 2021 openaire +1 more source
Enfermedad de Morquio en un niño [PDF]
, 2017 The case report of an 8 years boy with history of repeated breathing infections is presented. He was assisted 4 years ago in the health center of Archidona, and he was referred to the hospital of Tena city, where some complementary exams that didn't ...
González Gámez, Soini +2 more
core
Epidemiological and population genetic characterization of fucosidosis in Holguin province, Cuba [PDF]
Introduction: fucosidosis is a rare lysosomal storage disease, of which in Cuba, patients have been reported only in Holguín province. Objective: to characterize the epidemiological and genetic-population behavior of fucosidosis in Holguín province ...
Collazo Mesa, Teresa +5 more
core +2 more sources
Nuevas recomendaciones para el cuidado de los pacientes con mucopolisacaridosis tipo I
Archivos Argentinos de Pediatria, 2021 openaire +1 more source
Tratamiento de sustitución enzimática en pacientes con mucopolisacaridosis I, II y VI [PDF]
, 2011 Malalties hereditàries metabòliques; Mucopolisacaridosis; Medicina basada en l'evidència; Metabolic inherited diseases; Mucopolysaccharidosis; Evidence-based medicine; Enfermedades hereditarias metabólicas; Enzimas; Medicina basada en la evidenciaLes ...
Almazán, Cari +2 more
core
Consideraciones anestésicas en mucopolisacaridosis [PDF]
, 2023 Andrés Carmona L. +3 more
core +1 more source
Genómica comparativa de las variantes exómicas de pacientes con MPS IV-A y su frecuencia poblacional en una muestra del suroccidente colombiano [PDF]
, 2018 La Mucopolisacaridosis tipo IV-A (MPS IV) o Síndrome de Morquio-A, es una enfermedad hereditaria autosómica recesiva causada por un defecto genético que genera deficiencia de la enzima N-acetil-galactosamina-6-sulfato-sulfatasa (GalNAc-6-sulfatasa, GALNS
Moreno Giraldo, Lina Johanna
core
[When rare diseases become urgent: inborn errors of metabolism in primary care]. [PDF]
Aten Primaria, 2009 González-Lamuño D +3 more
europepmc +1 more source