Results 91 to 100 of about 1,760 (179)

UEG Week 2025 Poster Presentations

United European Gastroenterology Journal, Volume 13, Issue S8, Page S803-S1476, October 2025.
wiley   +1 more source

Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy

, 2015
Mucopolysaccharidosis type IVA (MPS IVA) is an inborn error of glycosaminoglycan (GAG) catabolism due to the deficient activity of N-acetylgalactosamine-6-sulfate sulfatase that leads to accumulation of the keratan sulfate and chondroitin 6-sulfate in ...
da Rosa, Helen T., Biancini, Giovana B., Deon, Marion, Marchetti, Desirèe P., Donida, Bruna, Saffi, Jenifer, Vargas, Carmen Regla, Bender, Fernanda, Giugliani, Roberto, Moura, Dinara J., Burin, Maira G., Coitinho, Adriana S., Manini, Paula R.   +12 more
core   +1 more source

Poster Sessions

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Best abstracts from the APAGBI Annual Scientific Meeting 2024

Pediatric Anesthesia, Volume 35, Issue 2, Page 185-191, February 2025.
wiley   +1 more source

Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome

Drug Design, Development and Therapy, 2015
Shunji Tomatsu,1,2 Kazuki Sawamoto,1 Carlos J Alméciga-Díaz,3 Tsutomu Shimada,1 Michael B Bober,1 Yasutsugu Chinen,4 Hiromasa Yabe,5 Adriana M Montaño,6 Roberto Giugliani,7 Francyne Kubaski,1,8 Eriko ...
Tomatsu S, Sawamoto K, Alméciga-Díaz CJ, Shimada T, Bober MB, Chinen Y, Yabe H, Montaño AM, Giugliani R, Kubaski F, Yasuda E, Rodríguez-López A, Espejo-Mojica AJ, Sánchez OF, Mason RW, Barrera LA, Mackenzie WG, Orii T   +17 more
doaj  

Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model.

, 2020
Mucopolysaccharidosis type IVA (MPS IVA) is due to the deficiency of GALNS
Bruder, Joseph T, Danos, Olivier, Sawamoto, Kazuki, Stapleton, Molly, Tomatsu, Shunji, Karumuthil-Melethil, Subha, Khan, Shaukat   +6 more
core  

in Korean patients with mucopolysaccharidosis IVA

, 2013
Mucopolysaccharidosis IVA (MPS IVA; OMIM #253000) is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), a lysosomal enzyme involved in the catabolism of keratan and chondroitin sulfate.
Park, HD, Kim, JW, Ko, AR, Dong‐Kyu Jin, Ah‐Ra Ko, Sung Yoon Cho, Young Bae Sohn, Kim, SH, Cho, SY, Lee, SY, Sohn, YB, Ki, CS, Jin, DK, Hyung‐Doo Park, Park, SW, Chang‐Seok Ki, Soo‐Youn Lee, Sung Won Park, Jong‐Won Kim, Se Hwa Kim   +19 more
core   +1 more source

Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome)

Molecular Genetics and Metabolism Reports
Mucopolysaccharidosis (MPS) IVA (Morquio A syndrome) is an autosomal recessive lysosomal storage disorder caused by a mutation affecting the enzyme N-acetylgalactosamine-6-sulfatase (EC 3.1.6.4, GALNS).
Juyoung Sung, Insung Kim, Minji Im, Yoon Ji Ahn, Sang-Mi Kim, Ja-Hyun Jang, Hyung-Doo Park, Tae Yeon Jeon, Kyung Rae Ko, Se-Jun Park, Jun Hwa Lee, Eun Young Kim, Chong Kun Cheon, Eungu Kang, Jung-eun Moon, Young Bae Sohn, Hsiang-Yu Lin, Chih-Kuang Chuang, Shuan-Pei Lin, Sung Yoon Cho   +19 more
doaj   +1 more source

Growth Patterns in MPS IVA and MPS IIIA: A Longitudinal Single-Center Study. [PDF]

J Clin Med
Carmon L, Nassar M, Idan D, Leifman D, Shaki D, Elamour S, Hershkovitz E, Loewenthal N, Haim A, Chacham OS.   +9 more
europepmc   +1 more source

Correction to "Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA)". [PDF]

ACS Omega
Priya N M, Vasudevan V, N SK, Ahmed SS, Ramasamy M.   +4 more
europepmc   +1 more source