Applying the functional independence measure to the assessment of patients with mucopolysaccharidosis. [PDF]
Colomb Med (Cali), 2020 Almeida Matos M +4 more
europepmc +1 more source
[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
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
Clinical and oral characteristics in patients affected by mucopolysaccharidosis type IV – A: Case reports [PDF]
Introduction: Mucopolysaccharidoses are rare diseases related to chronic metabolic conditions caused by a genetic mutation that results in the deficiency of lysosomal enzymes responsible for the degradation of glycosaminoglycans, causing alterations in ...
Eduarda Martins Fontes Cantarella de Almeida +6 more
core +2 more sources
Estado bibliográfico de los dominios neuropsicológicos en pacientes con síndrome de sanfilippo. [PDF]
, 2020 Informar el estado bibliográfico de los dominios neuropsicológicos en pacientes con Síndrome de Sanfilippo identificados mediante una revisión narrativaLa Mucopolisacaridosis (MPS) tipo III o Síndrome de Sanfilippo, es una enfermedad huérfana que hace ...
Gamba Medina, Paula Michelle
core +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
Consideraciones anestésicas en mucopolisacaridosis [PDF]
, 2023 Andrés Carmona L. +3 more
core +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
Modelamiento in silico de la proteína heparan-alfa-glucosamina n-acetil transferasa y análisis funcional de isoformas mediante docking molecular [PDF]
, 2018 94 páginas : gráficasEl Síndrome de SanFilippo o Mucopolisacaridosis (MPS) Tipo III-C está definido dentro de los cinco trastornos de almacenamiento lisosomal neurodegenerativo autosómico recesivo en los humanos, cuyos síntomas son causados por la ...
Ballesteros Suárez, Cristhian Nicolás +1 more
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