Results 31 to 40 of about 5,730 (195)

Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl

BMC Medical Genetics, 2019
Background Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost exclusively in
A. N. Semyachkina, E. Y. Voskoboeva, E. Y. Zakharova, E. A. Nikolaeva, I. V. Kanivets, A. D. Kolotii, G. V. Baydakova, M. N. Kharabadze, R. G. Kuramagomedova, N. V. Melnikova   +9 more
doaj   +1 more source

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

BMC Medical Genetics, 2020
Background Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accumulation of sulfated ...
L Chkioua, O Grissa, N Leban, M Gribaa, H Boudabous, H Ben Turkia, S Ferchichi, N Tebib, S Laradi   +8 more
doaj   +1 more source

Toxicology Study of Intra-Cisterna Magna Adeno-Associated Virus 9 Expressing Iduronate-2-Sulfatase in Rhesus Macaques

Molecular Therapy: Methods & Clinical Development, 2018
Hunter syndrome is an X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase. The severe form of this progressive, systemic, and neurodegenerative disease results in loss of cognitive skills and early death. Several
Juliette Hordeaux, Christian Hinderer, Tamara Goode, Elizabeth L. Buza, Peter Bell, Roberto Calcedo, Laura K. Richman, James M. Wilson   +7 more
doaj   +1 more source

A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia

Clinical Case Reports, 2021
Mucopolysaccharidoses (MPSs) are a class of lysosomal storage disorders resulting in progressive disease manifestations and are caused by pathogenic variants in genes coding for enzymes needed to degrade glycosaminoglycans.
Solomie Jebessa Deribessa, Mekdes Endale Bisrat, Zewdu Terefework, Shane C. Quinonez   +3 more
doaj   +1 more source

遺伝性ムコ多糖代謝異常症II型 (Hunter病) の分子生物学的研究 I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^<1327> to T substitution in the iduronate sulfatase gene. II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. [PDF]

, 1995
博士論文 (Doctoral dissertation)I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^ to T substitution in the iduronate sulfatase gene.II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight ...
396222, 祐川, 和子
core   +1 more source

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

Molecular Genetics and Metabolism Reports, 2014
Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28.
H. Amartino, R. Ceci, F. Masllorens, A. Gal, C. Arberas, L. Bay, R. Ilari, J. Dipierri, N. Specola, A. Cabrera, P. Rozenfeld   +10 more
doaj   +1 more source

Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review

Radiology Case Reports, 2021
Mucopolysaccharidosis type 2 is a congenital lysosomal disease characterized by iduronate-2-sulfatase deficiency, which leads to excessive accumulation of glycosaminoglycans in tissue.
Tomoaki Sasaki, MD, PhD, Miki Ogata, MD, Aya Kajihama, MD, Kouichi Nakau, MD, Atsutaka Okizaki, MD, PhD   +4 more
doaj   +1 more source

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, H. García Vidaña, G. Pacheco Cuéllar, S.A. Cuevas-Covarrubias   +3 more
doaj   +1 more source

Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting

JIMD Reports, 2021
Mucopolysaccharidosis type II (MPS II) is a multi‐systemic disorder arising due to pathogenic variants in the gene located on chromosome Xq28 encoding the lysosomal enzyme, iduronate 2‐sulfatase (IDS).
Maria Fuller, David Ketteridge
doaj   +1 more source

Laboratory scale production of the human recombinant iduronate 2-sulfate sulfatase-Like from Pichia pastoris [PDF]

, 2010
Clone IDS28 of the yeast Pichia pastoris expressing the human iduronate 2-sulfate sulfatase-Like (hIDSLike) was employed for low-scale production of the recombinant enzyme in a saline culture media without phosphate.
Algecira-Enciso, NA, Córdoba-Ruiz, HA, Barrera-Avellaneda, LA, Landázuri, P, Echeverri-Peña, OY, Sáenz, H, Poutou-Piñales, RA   +6 more
core   +1 more source