Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]
, 2020 Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam +13 more
core +3 more sources
Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]
, 2016 BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I +7 more
core +3 more sources
Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]
, 2017 Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María +5 more
core
Estudio de caso: influencia del diagnóstico etiológico en las medidas terapéuticas para un niño/a [PDF]
, 2010 En este estudio se trata de determinar las diferencias en las medidas terapéuticas llevadas a cabo con dos niñas, dependiendo de si contamos con diagnóstico etiológico o no.
González Bernal, Jerónimo +1 more
core
Contribución Colombiana al Conocimiento de la Enfermedad de Morquio A
Medicina, 2012 La enfermedad de Morquio A o Mucopolisacaridosis IV A es un trastorno de depósito lisosomal producidapor alteración en la actividad de la enzima N-acetilgalactosamina-6-sulfato sulfatasa (GALNS) encargada de la degradación de queratán y condroitin-6 ...
Carlos Javier Alméciga Díaz +3 more
doaj
A Fatal Case of Generalized Lysosomal Storage Disease in an Infant. [PDF]
, 2010 Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of gangliosides in several tissues, mainly in neurons.
Ancer Rodríguez, Jesús +7 more
core
Morquio Syndrome from a Dentist's aspect
, 2022 Morquio syndrome is a rare autosomal recessive inherited disease of lysosomal storage defect associated with multiorgan involvement and symptoms are seen due to excessive accumulation of Glucose-aminoglycans in the affected sites. Its characteristic features are extremely abnormal gait, short stature, short neck, and macrocephaly which can be ...
openaire +1 more source
A New Familial Chondrodystrophy Simulating Parastremmatic Dwarfism [PDF]
, 1977 Recent developments in tissue culture and enzyme analysis have made it possible to classify more precisely some of the skeletal dysplasias and to understand their pathophysiology; thus almost all seven clinical types of mucopolysaccharidoses are due to ...
Golden, Wendy L. +2 more
core +1 more source
La Iglesia de Cristo obrero de Eladio Dieste: caracterización y evaluación de los morteros y cerámicos empleados [PDF]
, 2017 Durante la segunda mitad del siglo XX el ladrillo cerámico empleado “a la vista” fue considerado un símbolo de la tradición constructiva local en el Uruguay, dando lugar a la reflexión acerca de sus cualidades estéticas y formales, tanto como técnico ...
Aulet, Alina +3 more
core
Journal of Inborn Errors of Metabolism and Screening, 2015 This cross-sectional analysis assessed the correlation between patient-reported outcomes (PROs) and clinical outcomes in 24 German patients with Morquio A.
Christina Lampe MD +5 more
doaj +1 more source