Results 11 to 20 of about 12,127 (209)
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
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
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
Cervical spondylolisthesis in mucopolysaccharidosis type II. [PDF]
Neurol Sci, 2023 Rossi A, Parenti G.
europepmc +4 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
Non-Neuropathic Form of Mucopolysaccharidosis Type II: Clinical Cases
Вопросы современной педиатрии, 2021 Background. Mucopolysaccharidosis (MPS) type II is an X-linked hereditary disease from the lysosomal storage diseases group. The absence or malfunctioning of the iduronate-2-sulfatase enzyme leads to disruption in glycosaminoglycans (GAG) degradation ...
Nato D. Vashakmadze +4 more
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2020 Mucopolysaccharidosis type II is a disease caused by organ accumulation of glycosaminoglycans due to iduronate 2-sulfatase deficiency. This study investigated the pathophysiology of the bone complications associated with mucopolysaccharidosis II and the ...
Miho Wada +13 more
doaj +1 more source
International Journal of Neonatal Screening, 2023 The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS).
Sikha Singh +4 more
doaj +1 more source
Mucopolysaccharidosis Type II and the G374sp Mutation [PDF]
Molecular Syndromology, 2013 Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans resulting in accumulation of heparan and dermatan sulfate in many organs and tissues.
Martínez-Quintana, E. +1 more
openaire +3 more sources
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report
Frontiers in Genetics, 2020 RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes +7 more
doaj +1 more source