Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update [PDF]
International Journal of Neonatal Screening, 2020 Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, progressive multisystemic lysosomal storage disorder with significant morbidity and premature mortality.
Barbara K. Burton +2 more
doaj +3 more sources
The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II. [PDF]
PLoS ONE, 2014 Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase.
Zbigniew Żuber +3 more
doaj +2 more sources
Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report [PDF]
Journal of Medical Case Reports, 2010 Introduction We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding.
Sharma Subodh, Mahal Tania, Shah Gauri
doaj +3 more sources
Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) [PDF]
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 +2 more sources
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 +2 more sources
A case report of a patient with mucopolysaccharidosis type II
Revista Médica del Hospital General de México, 2017 Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an inborn error of metabolism due to lysosomal accumulation, with a recessive inheritance pattern linked to the X chromosome.
M.R. Rivera Vega +3 more
doaj +2 more sources
Cervical spondylolisthesis in mucopolysaccharidosis type II. [PDF]
Neurol Sci, 2023 Rossi A, Parenti G.
europepmc +4 more sources
Mucopolysaccharidosis type II: skeletal–muscle system involvement
Journal of Pediatric Orthopaedics B, 2010 Mucopolysaccharidosis type II (MPS-II) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulphatase. This enzyme is responsible for the catabolism of two different glycosaminoglycans (GAGs), dermatan sulfate and heparan sulfate.
Sandra Regina, Morini +2 more
openaire +3 more sources
The Impact of Hydrotherapy on Health-Related Quality of Life, Pain and Mobility in Individuals With Mucopolysaccharidosis Type II (Hunter Syndrome): A Pilot Feasibility Study. [PDF]
JIMD RepABSTRACT Enzyme Replacement Therapy (ERT) is the clinical standard for Mucopolysaccharidosis II (MPSII), yet its limited penetration into poorly vascularised tissues such as bone, cartilage and heart valves leaves participants with significant musculoskeletal morbidity.
Oldham A +6 more
europepmc +2 more sources
Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation. [PDF]
Turk Arch PediatrObjective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF).
Buchinskaia NV +13 more
europepmc +2 more sources