Results 81 to 90 of about 11,933,855 (190)

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

, 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.
F. Masllorens, C. Arberas, A. Cabrera, Amartino, H, Arberas, C., R. Ceci, J. Dipierri, Rozenfeld, Paula Adriana, Bay, L., Gal, A., Arberas, Claudia Liliana, Dipierri, Jose Edgardo, Specola, N., A. Gal, Masllorens, F, R. Ilari, Ceci, Romina, Masllorens, F., Rozenfeld, P., H. Amartino, Ilari,R, Ilari, R., Amartino, H., Cabrera, A, Dipierri, J., Bay, L, L. Bay, Cabrera, A., Specola, N, N. Specola, P. Rozenfeld   +30 more
core   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Ward, N.J., Buckley, S.M.K., Ward, NJ, Chan, J.K.Y., Waddington, S.N., Rahim, A.A., Waddington, SN, Rahim, AA, Chan, JK, Mckay, T.R., Howe, S.J., Howe, SJ, McKay, TR, Natalie J. Ward, Ahad A. Rahim, Steven J. Howe, Jerry K.Y.Chan, Suzanne M.K. Buckley, Simon N. Waddington, Tristan R. McKay   +20 more
core   +1 more source

P012: Measuring non-reducing terminal glycosaminoglycan fragments increases specificity and differentiates mucopolysaccharidosis type I (MPS I) from mucopolysaccharidosis type II (MPS II)

Genetics in Medicine Open, 2023
Taraka Donti, Sara Smith, Sasha Chernenkoff, Madeline Ellgass, Madhuri Hegde   +4 more
doaj   +1 more source

α-L-iduronidase therapy for mucopolysaccharidosis type I

, 2008
Jakub Tolar, Paul J OrchardDivision of Hematology, Oncology, Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USAAbstract: More than 500 patients with mucopolysaccharidosis type IH (MPS IH; Hurler ...
Jakub Tolar, Paul J Orchard
core  

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

Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms

EMBO Molecular Medicine, 2018
The pediatric lysosomal storage disorder mucopolysaccharidosis type II is caused by mutations in IDS, resulting in accumulation of heparan and dermatan sulfate, causing severe neurodegeneration, skeletal disease, and cardiorespiratory disease.
Hélène FE Gleitz, Ai Yin Liao, James R Cook, Samuel F Rowlston, Gabriella MA Forte, Zelpha D'Souza, Claire O'Leary, Rebecca J Holley, Brian W Bigger   +8 more
doaj   +1 more source

Mucopolysaccharidosis Type 3B in an Adult with Pancytopenia: A Rare Case Report

, 2014
Mucopolysaccharidoses are rare hereditary lysosomal storage diseases developing due to dysfunction or deficiencies in enzymes that metabolize long-chain carbohydrates and glycosaminoglycans.
Nihal Güzelay, Alparslan Merdin, Fatma Avcı Merdin, Mustafa Karaca   +3 more
core   +1 more source

Collagen Type II-Targeting Lentiviral Gene Therapy for Mucopolysaccharidosis IVA

Current Issues in Molecular Biology
Mucopolysaccharidosis (MPS IVA) is caused by pathogenic variations in the GALNS gene, leading to the accumulation of glycosaminoglycans in tissues and causing progressive skeletal lesions.
Betul Celik, Sampurna Saikia, Shaukat Khan, Krishna Sai Musini, Shunji Tomatsu   +4 more
doaj   +1 more source

Mucopolysaccharidosis type II (Hunter syndrome) – A case report [PDF]

, 2017
Hunter syndrome or mucopolysaccharidosis (MPS) type II is an X-linked recessive disorder caused by a defect in themetabolism of glycosaminoglycans (GAGs).
Jyotsna, Shrivastava, Amit, Agrawal
core  

Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate

Diagnostics
Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS).
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Agnieszka Ługowska, Jolanta Marucha, Katarzyna Drabko, Anna Tylki-Szymańska   +5 more
doaj   +1 more source