Results 1 to 10 of about 12,041 (191)
Mucopolysaccharidosis Type II: A Kenyan Case Series [PDF]
International Journal of Endocrinology, 2021 Hunter syndrome, or mucopolysaccharidosis type 2 (MPS2), is a lysosomal storage disorder associated with the involvement of multiple organs such as the central nervous system, hepatomegaly, musculoskeletal, respiratory, cardiac, and hearing.
L. N. Wainaina Mungai +3 more
doaj +4 more sources
The diagnosis and management of mucopolysaccharidosis type II [PDF]
Italian Journal of PediatricsMucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, causing the inability to degrade ...
Shao-Jia Mao +4 more
doaj +4 more sources
Педиатрическая фармакология, 2011 Article is devoted to one of the orphan diseases — mucopolysaccharidosis (MPS), which is the result of any lysosomal enzyme deficiency (which determines the type of illness). The most common is the MPS type II (Hunter syndrome), developing as a result of
N.D. Vashakmadze +6 more
doaj +5 more sources
Nasal Polyposis in mucopolysaccharidosis type II. [PDF]
BMJ Case Rep, 2021 Mucopolysaccharidosis (MPS) type II is a rare multisystem disorder resulting from the accumulation of breakdown products of glycosaminoglycans in the body tissues. Many patients with this disease undergo ENT (ear, nose and throat) surgeries such as adenotonsillectomy and tympanocentesis at a very early age, much before the diagnosis of MPS.
Kabekkodu S +3 more
europepmc +3 more sources
Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency
Вопросы современной педиатрии, 2020 Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder ...
Nato D. Vashakmadze +6 more
doaj +3 more sources
Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland [PDF]
Biomedicines, 2023 Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is a rare, inherited lysosomal storage disease. The disease is caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase (I2S) due to mutations in the IDS gene, which leads ...
Zbigniew Żuber +4 more
doaj +2 more sources
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 +2 more sources
A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation [PDF]
Scientific Reports, 2023 Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by an accumulation of glycosaminoglycans (GAGs), including heparan sulfate, in the body.
Ryuichi Mashima +4 more
doaj +2 more sources
Cervical spondylolisthesis in mucopolysaccharidosis type II. [PDF]
Neurol Sci, 2023 Rossi A, Parenti G.
europepmc +4 more sources
Biomarkers in patients with mucopolysaccharidosis type II and IV
Molecular Genetics and Metabolism Reports, 2019 Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers.
Honoka Fujitsuka +11 more
doaj +3 more sources