Results 31 to 40 of about 1,478,183 (195)

Current Approaches to the Treatment of Hunter Syndrome

Педиатрическая фармакология, 2018
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked hereditary disorder associated with a deficiency of iduronate2-sulfatase (IDS). IDS deficiency provokes the accumulation of dermatan sulfate and heparan sulfate in different tissues ...
Ekaterina Yu. Zakharova, Elena Yu. Voskoboeva, Alla N. Semyachkina, Nato D. Vashakmadze, Amina I. Gamzatova, Svetlana V. Mikhailova, Sergey I. Kutsev   +6 more
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Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome

Molecular Genetics and Metabolism Reports, 2014
Patients with Hunter syndrome (mucopolysaccharidosis II) present with skeletal dysplasia including short stature as well as CNS and visceral organ involvement.
Pravin Patel, Yasuyuki Suzuki, Akemi Tanaka, Hiromasa Yabe, Shunichi Kato, Tsutomu Shimada, Robert W. Mason, Kenji E. Orii, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu   +10 more
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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
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Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene

Stem Cell Research, 2019
Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S).
Junjie Hong, Miao Xu, Rong Li, Yu-Shan Cheng, Jennifer Kouznetsova, Jeanette Beers, Chengyu Liu, Jizhong Zou, Wei Zheng   +8 more
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Autism Spectrum Disorder in a Child With Hunter Syndrome

Psychiatry and Clinical Psychopharmacology, 2021
Mucopolysaccharidoses (MPS) include a group of chronic and progressive lysosomal storage disorders (LSD) which are characterized by the absence or deficiency of specific lysosomal enzymes.
Hasan Can Ozbay, Mutlu Muhammed Ozbek, Doga Sevincok, Kutay Tas, Hatice Aksu, Ayse Tosun   +5 more
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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
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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
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MUCOPOLYSACHARIDOSIS II AND SURGERY /REVIEW/ [PDF]

Trakia Journal of Sciences, 2020
Patients with type mucopolysaccharidosis/MPS/ II usually undergo surgery at an early age before the diagnosed. Mucopolysaccharidosis, type II is also known as Hunter syndrome.Recurrent early surgical interventions, especially for hernia or carpal tunnel ...
K. Kalinova, K. Georgiev, I. Mladenova
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Hunter′s syndrome: A case report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2015
Hunter′s syndrome or mucopolysaccharidosis (MPS) type II is an X-linked recessive mucopolysaccharide disorder caused by a defect in the metabolism of glycosaminoglycans (GAGs) characterized by involvement of nervous, cardiovascular, respiratory, and ...
N S Savitha, G Saurabh, S H Krishnamoorthy, S Nandan, A Ambili   +4 more
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Human induced pluripotent stem cell line (PNUSCRi005-A) generated from severe type of Hunter syndrome patient carrying exonic deletion (exon 4–7 del) in in human iduronate 2-sulfatase gene

Stem Cell Research
Mucopolysaccharidosis Type Ⅱ, as Known as Hunter syndrome, is a rare X-liked genetic disease caused by mutations in iduronate-2-sulfatase (IDS) gene.
Nayeon Lee, Haneul Noh, Chong Kun Cheon
doaj   +1 more source