Results 161 to 170 of about 2,254 (171)

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

Human Mutation, 1997
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency of the lysosomal N-acetylgalactosamine-6-sulfate sulfatase. Here, we report our analysis of data on 21 patients of diverse ethnic and geographic origins studied by SSCP and sequencing analysis.
S, Tomatsu, S, Fukuda, A, Cooper, J E, Wraith, P, Ferreira, P, Di Natale, P, Tortora, A, Fujimoto, Z, Kato, N, Yamada, K, Isogai, A, Yamagishi, K, Sukegawa, Y, Suzuki, N, Shimozawa, N, Kondo, W S, Sly, T, Orii   +17 more
openaire   +2 more sources

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

American Journal of Medical Genetics Part A, 2014
ABSTRACTMucopolysaccharidosis IV A (Morquio syndrome A, MPS IVA) is a lysosomal storage disease caused by the deficiency of N‐acetylgalactosamine‐6‐sulfatase (GALNS). The mutation spectrum in this condition is yet to be determined in Indians. We aimed to analyze the mutations in the GALNS gene in Asian Indians with MPS IVA.
Abdul Mueed Bidchol, Ashwin Dalal, Hitesh Shah, Suryanarayana S, Sheela Nampoothiri, Madhulika Kabra, Neerja Gupta, Sumita Danda, Kalpana Gowrishankar, Shubha R. Phadke, Seema Kapoor, Mahesh Kamate, I.C. Verma, Ratna Dua Puri, V.H. Sankar, A. Radha Rama Devi, S.J. Patil, Prajnya Ranganath, S. Jamal Md Nurul Jain, Meenal Agarwal, Ankur Singh, Pallavi Mishra, Parag M. Tamhankar, Puthiya Mundyat Gopinath, H.A. Nagarajaram, Kapaettu Satyamoorthy, Katta Mohan Girisha   +26 more
openaire   +2 more sources

Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene

Molecular Genetics and Metabolism, 2006
Design of efficient treatment strategies for diseases requires clarification of the nature of each mutation causing the disease. In this study, we have investigated three factors to correctly predict the correlation between genotype and phenotype on N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene responsible for one of lysosomal storage diseases,
Shunji, Tomatsu, Adriana M, Montaño, Patricia, Lopez, Georgeta, Trandafirescu, Monica A, Gutierrez, Hirotaka, Oikawa, Tatsuo, Nishioka, Matheus B, Vieira, Tadao, Orii, Akihiko, Noguchi   +9 more
openaire   +2 more sources

Lentiviral gene therapy for mucopolysaccharidosis type IVA

Molecular Genetics and Metabolism, 2023
Betul Celik, Estera Rintz, Fnu Nidhi, Shaukat Khan, Shunji Tomatsu   +4 more
openaire   +1 more source

Obstructive airway in mucopolysaccharidosis IVA

Molecular Genetics and Metabolism, 2016
Shunji Tomatsu, Lauren W. Averill, Christian Pizarro, Mary Theroux, Kazuki Sawamoto, Tadao Orii   +5 more
openaire   +1 more source

Mutation analysis in mucopolysaccharidosis IVA

Molecular Genetics and Metabolism, 2013
Karen Tylee, Kathryn Booth, Heather Church   +2 more
openaire   +1 more source

Cochlear implantation in a patient with mucopolysaccharidosis type IVA

Molecular Genetics and Metabolism, 2020
Shunji Tomatsu, Kyoko Nagao, Cassidy Walter, William J. Parkes, Michael Teixido, Mary C. Theroux, Stacy Szymkowski, Thierry Morlet   +7 more
openaire   +1 more source

Bone health in mucopolysaccharidosis type IVA (Morquio syndrome)

Molecular Genetics and Metabolism, 2014
John Mitchell, Mouna Ben Amor, Louis-Nicholas Veilleux, Jason Steinmetz, Frank Rauch   +4 more
openaire   +1 more source

Substrate degradation enzyme therapy (SDET) for mucopolysaccharidosis type IVA

Molecular Genetics and Metabolism, 2018
Shunji Tomatsu, Kazuki Sawamoto, Tokiko Sakai, Ikue Kitazawa, Hideyuki Futatsumori, Takehiko Nakamura   +5 more
openaire   +1 more source

Challenges in the diagnosis of mucopolysaccharidosis type IVA

Molecular Genetics and Metabolism
Marzia Pasquali, Yalda Saffary, Filippo Ingoglia, Judith Hobert, Elizabeth Ames, Rachel Fisher, Gustavo Maegawa, Lorenzo D. Botto, Nicola Longo   +8 more
openaire   +1 more source