Interference of oropharyngeal dysphagia in food consumption in patients with mucopolysaccharidosis II [PDF]
, 2012 PURPOSE: this study aimed to relate the degree of dysphagia and food consumption of individuals with mucopolysaccharidosis II (MPS II). METHOD: it was included individuals with MPS II of the genetics department at the State University of Alagoas and ...
Barbosa, Pauliana Buarque +5 more
core +2 more sources
Inclusion Cell Disease - A Rare Cause of Megalocornea with Corneal Edema
Delhi Journal of Ophthalmology, 2018 Inclusion cell disease (I cell disease), also known as mucolipidosis type II, is a rare congenital metabolic storage disorder which seemingly occupies an intermediate position between mucopolysaccharidosis and sphingolipidosis.1 We are hereby presenting ...
Namrata, Rahul Ranjan, Gaurav Arya
doaj +1 more source
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. [PDF]
, 2019 IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Akyol, Mehmet Umut +30 more
core
Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years [PDF]
, 2014 BACKGROUND: Hunter Syndrome is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate.
Agata Fiumara +12 more
core +1 more source
Molecular Genetics and Metabolism Reports, 2017 There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter ...
Olaf Bodamer +4 more
doaj +1 more source
Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome [PDF]
, 2015 Background: It remains unclear to what extent the brain is affected by Maroteaux-Lamy syndrome (MPS VI), a progressive lysosomal storage disorder. While enzyme replacement therapy (ERT) elicits positive effects, the drug cannot cross the blood–brain ...
Aarsen, F.K. (Femke) +8 more
core +1 more source
Management of Difficult Airway in a Patient with Mucopolysaccharidosis Type II
Journal of Pediatric Emergency and Intensive Care Medicine, 2019 Mucopolysaccharidosis type II (MPS II) is a rare, X-linked recessive disease characterized by deficiency of lysosomal iduronate-2-sulfatase. Progressive upper airway obstruction is common in patients with MPS II.
Damla Hanalioğlu +4 more
doaj +1 more source
Expanded carrier screening: A current perspective [PDF]
, 2018 Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb +12 more
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A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID) [PDF]
, 1993 4-Methylumbelliferyl-α-N-acetylglucosamine 6-sulphate was synthesized and shown to be a substrate for the lysosomal N-acetylglucosamine-6-sulphate sulphatase (GlcNAc-6S sulphatase). Fibroblasts and leukocytes from 3 different Sanfilippo D patients showed
Boer, A.M. +4 more
core +2 more sources
Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome [PDF]
, 2016 OBJECTIVE: To present long-term respiratory function outcomes from an open-label, multi-center, phase 3 extension study (MOR-005) of elosulfase alfa enzyme replacement therapy (ERT) in patients with Morquio A syndrome.
AlSayed, MD +14 more
core +2 more sources