Results 91 to 100 of about 1,596 (158)

Data in support of the longitudinal characterization of pulmonary function in children with Mucopolysaccharidoses IVA

Data in Brief, 2019
Mucopolysaccharidoses type IVA (Morquio disease) is a rare, autosomal recessive lysosomal storage disease that causes both obstructive and restrictive airway pathology, with respiratory failure being the primary cause of death.
Johnny J. Kenth, Gabrielle Thompson, Stuart Wilkinson, Simon Jones, I.A. Bruce   +4 more
doaj   +1 more source

Adeno-associated virus-based gene therapy delivering combinations of two growth-associated genes to MPS IVA mice

Molecular Therapy: Nucleic Acids
Mucopolysaccharidosis type IVA (MPS IVA) is caused by a deficiency of the galactosamine (N-acetyl)-6-sulfatase (GALNS) enzyme responsible for the degradation of specific glycosaminoglycans (GAGs).
Estera Rintz, Betul Celik, Nidhi Fnu, Angélica María Herreño-Pachón, Shaukat Khan, Eliana Benincore-Flórez, Shunji Tomatsu   +6 more
doaj   +1 more source

Natural history of Morquio A patient with tracheal obstruction from birth to death

Molecular Genetics and Metabolism Reports, 2018
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan ...
Caitlin Doherty, Lauren W. Averill, Mary Theroux, William G. Mackenzie, Christian Pizarro, Robert W. Mason, Shunji Tomatsu   +6 more
doaj   +1 more source

Novel human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in a glyco-engineered Escherichia coli strain

Heliyon
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in the accumulation of keratan sulfate (KS) and chondroitin-6 ...
Luisa N. Pimentel-Vera, Alexander Rodríguez-López, Angela J. Espejo-Mojica, Aura María Ramírez, Carolina Cardona, Luis H. Reyes, Shunji Tomatsu, Thapakorn Jaroentomeechai, Matthew P. DeLisa, Oscar F. Sánchez, Carlos J. Alméciga-Díaz   +10 more
doaj   +1 more source

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

, 2014
OBJECTIVE: Mucopolysaccharidosis IVA (MPS IVA, or Morquio A syndrome) and VI (MPS VI, or Maroteaux-Lamy syndrome) are autosomal recessive lysosomal storage disorders.
Ralph S. Lachman, Hiroki Kano, Barbara K. Burton, Ok-Hwa Kim, Shediac, Renee, Renée Shediac, Tanpaiboon, Pranoot, Scott Hoffinger, Mendelsohn, Nancy J., Shiro Ikegawa, Burton, Barbara K., Hoffinger, Scott, Kim, Ok-Hwa, White, Klane K., Kano, Hiroki, Pranoot Tanpaiboon, Jin, Dong-Kyu, Christina Lampe, Nancy J. Mendelsohn, Lachman, Ralph S., Clarke, Lorne A., Ikegawa, Shiro, Lampe, Christina, Lorne A. Clarke, Klane K. White, Dong-Kyu Jin   +25 more
core   +1 more source

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program [PDF]

, 2018
There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions.
Gutiérrez Solana, Luís G., Couce, María L, Blasco Alonso, Javier, María L. Couce, Mireia del Toro, Guillén Navarro, Encarnación, Pintos Morell, Guillem, Del Toro, Mireia, Pintos-Morell, Guillem, Luís G. Gutiérrez-Solana, Mar O'Callaghan, O'Callaghan, Mar, Gutiérrez-Solana, Luís G, Couce, Maria Luz, Couce, María-Luz, Encarna Guillén-Navarro, Couce Pico, María de la Luz, Guillén-Navarro, Encarna, Guillem Pintos-Morell, González-Gutiérrez-Solana, Luis, O'Callaghan, Maria del Mar, Guillén-Navarro, Encarnación, Toro, Mireia del, Universitat Autònoma de Barcelona, Javier Blasco-Alonso, González Gutiérrez-Solana, Luis, Blasco-Alonso, Javier   +26 more
core   +1 more source

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Orphanet Journal of Rare Diseases, 2019
Background Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency.
Huey Yin Leong, Nor Azimah Abdul Azize, Hui Bein Chew, Wee Teik Keng, Meow Keong Thong, Mohd Khairul Nizam Mohd Khalid, Liang Choo Hung, Norzila Mohamed Zainudin, Azura Ramlee, Muzhirah Aisha Md Haniffa, Yusnita Yakob, Lock Hock Ngu   +11 more
doaj   +1 more source

Publication Only

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

Evaluation of the CRISPR/Cas9 system as genome editing platform for the Mucopolysaccharidosis IV A using a strategy for induction of higher homologous recombination frequency

Universitas Scientiarum
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez, Andrés Felipe Leal, Carlos Javier Alméciga Díaz   +2 more
doaj   +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