Results 21 to 30 of about 1,451,354 (224)
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A. [PDF]
J Mol Biol, 2012 Rivera-Colón Y +3 more
europepmc +2 more sources
A Narrative Review of Morquio Syndrome: Mucopolysaccharidosis (MPS) Type IV
Open Ophthalmology Journal, 2023 Morquio Syndrome or Mucopolysaccharidosis Type IV (MPS IV) is a rare inherited metabolic disorder characterized by the deficiency of certain lysosomal enzymes involved in the breakdown of mucopolysaccharides.
A. C. Robart +4 more
semanticscholar +1 more source
Functional results after carpal tunnel release in mucopolysaccharidosis
Orphanet Journal of Rare Diseases, 2021 Background Mucopolysaccharidosis consists of a group of diseases caused by the deficiency of lysosomal enzymes, which may lead to the compression of the median nerve in the carpal tunnel due to the accumulation of glycosaminoglycan, resulting in the hand
Giana Silveira Giostri +5 more
doaj +1 more source
Echocardiographic abnormalities in type IV mucopolysaccharidosis. [PDF]
Archives of Disease in Childhood, 1990 Cardiac involvement is well recognised in most forms of the mucopolysaccharidoses but there is poor documentation of abnormalities specific to Morquio's syndrome (type IV mucopolysaccharidosis). Ten patients with the classic form or type A Morquio's syndrome with a median age of 12.5 years underwent echocardiographic assessment.
R M, John, D, Hunter, R H, Swanton
openaire +2 more sources
Audiometric evaluation in individuals with mucopolysaccharidosis
Clinics, 2018 OBJECTIVES: To characterize the audiometric evaluation and acoustic immittance measures in different types of mucopolysaccharidosis. METHOD: Fifty-three mucopolysaccharidosis patients were evaluated.
Marcela Rosana Maia da Silveira +4 more
doaj +1 more source
Arterial pathology in canine mucopolysaccharidosis-I and response to therapy. [PDF]
, 2011 Mucopolysaccharidosis-I (MPS-I) is an inherited deficiency of α-L-iduronidase (IdU) that causes lysosomal accumulation of glycosaminoglycans (GAG) in a variety of parenchymal cell types and connective tissues.
Dickson, Patricia I +6 more
core +3 more sources
Mucopolysaccharidoses: A rare cause for bilateral cloudy cornea
Journal of Clinical Ophthalmology and Research, 2017 There are many different causes for corneal clouding/opacification which include both local ophthalmic causes as well as systemic causes. Mucopolysaccharidosis is a rare cause. Hence, we present a case of mucopolysaccharidosis type IV, who presented with
Jayshri Vipin Ekhar +3 more
doaj +1 more source
Genetics of Mucopolysaccharidosis Type IV (Morquio Disorder) in Patients from Azerbaijan
Ukraïnsʹkij žurnal medicini bìologìï ta sportu, 2022 Genetic screening in the Azerbaijan Republic for mucopolysaccharidosis disorder has been implemented. The purpose of the work was to study types of mucopolysaccharidosis mutations and discuss ways of disorder prophylaxis in the family with parents of ...
S. Alizada +3 more
semanticscholar +1 more source
Pediatrician (St. Petersburg), 2022 The review is devoted to the clinical, biochemical, and molecular genetic characteristics of autosomal recessive mucopolysaccharidoses (MPS) types IV, VI, and VII. MPS IV type, or Morquios syndrome, is represented by 2 types A and B.
V. N. Gorbunova, Natalia V. Buchinskaia
semanticscholar +1 more source
Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]
Dev Med Child NeurolThis study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Verity CM +3 more
europepmc +2 more sources