Results 21 to 30 of about 5,240 (183)
First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII [PDF]
Case Reports in Pediatrics, 2017 We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis.
Hazim Kadhim +4 more
doaj +2 more sources
African Journal of Paediatric Surgery, 2016 Background: Thoracolumbar kyphosis has been considered as the first presenting deformity and is often a key diagnostic clue noted in children with mucopolysaccharidosis (MPS) type IV (Morquio′s syndrome).
Ali Al Kaissi +6 more
doaj +2 more sources
Neurophysiology of hearing in patients with mucopolysaccharidosis type IV [PDF]
Molecular Genetics and Metabolism, 2018 Hearing impairment is a common problem in patients with mucopolysaccharidosis IV (MPS IV) throughout their life. Many of the adult patients with MPS IV exhibit permanent or severe hearing loss. However, there has been no systematic review of detailed audiological test results in MPS IV.Fourteen individuals with MPS IV (13 MPS IVA and 1 MPS IVB; aged ...
Kyoko Nagao +6 more
openaire +2 more sources
A case study of three patients with mucopolysaccharidoses in Hue Central Hospital
SAGE Open Medical Case Reports, 2020 Mucopolysaccharidosis is a group of rare metabolic disorders characterized by a deficiency of enzymes in the degradation of glycosaminoglycans. The incomplete degradation process leads to the accumulation of glycosaminoglycans in lysosomes of various ...
Tran Kiem Hao +3 more
doaj +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
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
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
A second reported malignancy in a patient with Morquio syndrome
Autopsy and Case Reports, 2017 Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma.
Ameer Hamza +5 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2020 Introduction: Mucopolysaccharidosis type IV A (MPS IVA) or Morquio A syndrome is an autosomal recessive lysosomal storage disease caused by GALNS gene mutations that lead to a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme and the ...
Andrés Felipe Erazo-Narváez +3 more
doaj +1 more source
Airway, 2021 Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that often present with a difficult airway. The trachea is usually narrowed and flattened, making the choice of correct technique and endotracheal tube (ETT) size crucial ...
Pradeep Tiwari +2 more
doaj +1 more source