Results 31 to 40 of about 97,768,729 (189)

Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign

Journal of Pediatric Research, 2021
Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly.
Ayşe Hitay İnan, Berna Şeker Yılmaz, Fatma Derya Bulut, Sebile Kılavuz, Deniz Kor, Mehmet Karakaş, Halise Neslihan Önenli Mungan   +6 more
doaj   +1 more source

Hunter Syndrome: Clinical Case of Early Diagnostics

Педиатрическая фармакология, 2020
Background. This clinical case of orphan disease can be interesting for its early diagnostics which is essential for timely specific therapy and sufficient dynamic observation. Clinical case description.
Natalya N. Martynovich, Yulia P. Semshchikova, Natalya Yu. Rudenko, Vera M. Shinkareva, Kristina V. Egorycheva   +4 more
doaj   +1 more source

Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation

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, Yohta Shimada, Sayoko Iizuka, Natsumi Ishii, Hiromi Hiraki, Toshiaki Tachibana, Kazuhiro Maeda, Mitsuru Saito, Shoutaro Arakawa, Takuya Ishimoto, Takayoshi Nakano, Hiroyuki Ida, Toya Ohashi, Hiroshi Kobayashi   +13 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

Changes in glycogen and glycosaminoglycan levels in hepatocytes of iduronate-2-sulfatase knockout mice before and after recombinant iduronate-2-sulfatase supplementation. [PDF]

Yonsei Med J, 2011
Mucopolysaccharidosis II (MPS II) is a lysosomal storage disorder caused by a deficiency of iduronate-2 sulfatase (IdS), which is involved in the degradation of glycosaminoglycan (GAG). In this study, the frequency of fasting hypoglycemia in patients with MPS II was investigated and changes in accumulation of glycogen and GAG in the hepatocytes of IdS ...
Lee JH, Choe YH, Kim SJ, Paik KH, Jin DK.   +4 more
europepmc   +3 more sources

Allergic Reactions at Enzyme Replacement Therapy in Children with Mucopolysaccharidosis Type II

Вопросы современной педиатрии, 2021
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is rare hereditary disease caused by changes in the IDS gene and associated deficiency of lysosomal enzyme iduronate-2-sulfatase (I2S).
Julia G. Levina, Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Elena A. Vishneva, Natalia V. Zhurkova, Kamilla E. Efendieva, Anna A. Alekseeva, Vera G. Kalugina   +7 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

Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II

Molecular Genetics and Metabolism Reports, 2023
Mucopolysaccharidosis type II (MPS II, OMIM 309900) is an X-linked disorder caused by a deficiency of lysosomal enzyme iduronate-2-sulfatase (IDS). The clinical manifestations of MPS II involve cognitive decline, bone deformity, and visceral disorders ...
Narutoshi Yamazaki, Mari Ohira, Shuji Takada, Akira Ohtake, Masafumi Onodera, Mahito Nakanishi, Torayuki Okuyama, Ryuichi Mashima   +7 more
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