Results 131 to 140 of about 97,768,729 (189)

Harmonizing Perspectives on MPS II Care in Türkiye: A Delphi Study Towards Treatment Management Consensus. [PDF]

Healthcare (Basel)
Mungan NO, Tumer L, Sivri S, Arslan N, Ucar SK, Seker Yilmaz B, Gokcay G.   +6 more
europepmc   +1 more source

Newborn Screening and Early Cord Blood Transplant for Mucopolysaccharidosis.

JAMA Netw Open
Sakaguchi H, Kosuga M, So T, Gocho Y, Ono S, Yasue S, Mizuno S, Minato S, Higuchi T, Kim Y, Sekiguchi M, Yamada M, Deguchi T, Ogiwara H, Kurosawa K, Okuyama T, Iguchi A, Tomizawa D, Matsumoto K.   +18 more
europepmc   +1 more source

Merging evans syndrome with mucopolysaccharidosis type II: a case report. [PDF]

Front Pediatr
Wang X, Zhang J, Tang Y, Liu C, Hu P, Yang Y, Chen H.   +6 more
europepmc   +1 more source

Expression of Five Iduronate-2-Sulfatase Site-Directed Mutations

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2000
Five point mutations (R88H, R88P, T118I, 959delT, R468Q) previously identified in the iduronate-2-sulfatase (IDS) gene of Italian Hunter patients were expressed in COS cells to evaluate their functional consequence on enzyme activity, processing and intracellular localization.
Guglielmo Rosario Domenico Villani, Aurora Daniele, Nicola Balzano   +2 more
exaly   +6 more sources

A Novel Functional Role of Iduronate-2-Sulfatase in Zebrafish Early Development

Matrix Biology, 2010
Sulfated glycosaminoglycan chains of extracellular matrix and cell membrane-tethered proteoglycans exert specific cellular functions by interacting with a broad spectrum of morphogens and growth factors. In humans, a congenital impaired catabolism of sulfated glycosaminoglycans is associated with severe metabolic disorders.
Francesco Argenton, Rosella Tomanin, Natascia Tiso   +2 more
exaly   +8 more sources

The Effect of Four Mutations on the Expression of Iduronate-2-Sulfatase in Mucopolysaccharidosis Type II

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2001
Mucopolysaccharidosis type II (Hunter syndrome; OMIM 309900) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13).
Mirella Filocamo, Gloria Bonuccelli, Stefano Regis   +2 more
exaly   +2 more sources

Uptake of Recombinant Iduronate-2-Sulfatase Into Neuronal and Glial Cells in Vitro

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2002
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a congenital storage disorder resulting from mutations on the iduronate-2-sulfatase (IDS) gene. The disease shows variable clinical phenotypes from severe to mild with progressive neurological dysfunction.
Guglielmo Rosario Domenico Villani, Aurora Daniele, Paola di Natale   +2 more
exaly   +7 more sources