Results 31 to 40 of about 5,048,722 (239)
Molecular Genetics and Metabolism, 2023 BACKGROUND Mucopolysaccharidosis II (MPS II) is a rare, X-linked lysosomal storage disease caused by pathogenic variants of the iduronate-2-sulfatase gene (IDS) and is characterized by a highly variable disease spectrum.
K. Yee +6 more
semanticscholar +1 more source
Mucopolysachharidosis-II: A Rare Case Report
Nepal Journal of Dermatology, Venereology & Leprology, 2020 Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an ...
Kalgi Baxi, Ashish Jagati, Pooja Agarwal
doaj +3 more sources
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
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
Human Gene Therapy, 2023 Mucopolysaccharidosis type II (MPSII) is a rare pediatric X-linked lysosomal storage disease, caused by heterogeneous mutations in the iduronate-2-sulfatase (IDS) gene, which result in accumulation of heparan sulfate (HS) and dermatan sulfate within ...
Oriana Mandolfo +5 more
semanticscholar +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
A Rare Case of Mucopolysaccharidosis: Hunter Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2015 Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs).
Jayaprasad Anekar +4 more
doaj +1 more source
Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II. [PDF]
Biol Blood Marrow Transplant, 2017 There is limited information regarding the long-term outcomes of hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis II (MPS II). In this study, clinical, biochemical, and radiologic findings were assessed in patients who underwent ...
Kubaski F +18 more
europepmc +2 more sources
Addition of MPS-II to the Recommended Uniform Screening Panel in the United States
International Journal of Neonatal Screening, 2022 It has recently been announced that the Secretary of the U.S. Department of Health and Human Services has approved the recommendation by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to add mucopolysaccharidosis type II (
David S. Millington, Can Ficicioglu
doaj +1 more source
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