Results 1 to 10 of about 8,071 (187)

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance [PDF]

Orphanet Journal of Rare Diseases, 2019
Introduction Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan ...
Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs   +30 more
doaj   +16 more sources

Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype [PDF]

Case Reports in Medicine, 2013
Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate.
Albina Tummolo, Orazio Gabrielli, Alberto Gaeta, Maristella Masciopinto, Lucia Zampini, Luigi Michele Pavone, Paola Di Natale, Francesco Papadia   +7 more
doaj   +7 more sources

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

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   +3 more sources

Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene [PDF]

Stem Cell Research, 2019
Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner.
Rong Li, Amanda Baskfield, Jeanette Beers, Jizhong Zou, Chengyu Liu, Carlos J. Alméciga-Díaz, Wei Zheng   +6 more
doaj   +4 more sources

Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries [PDF]

Molecular Genetics and Metabolism Reports, 2021
Background: There is a paucity of real-world epidemiological data on patients with mucopolysaccharidoses (MPS) in Latin America. This real-world study assessed the disease burden, management patterns and multidisciplinary clinical approaches for MPS-IVA ...
Villarreal M Solano, Claudia Yazmín Cossío Mandujano, Carmen Amor Avila-Rejon, Victor Hugo Espin, Hector Paul Quintero Montaño   +4 more
doaj   +2 more sources

Three-dimensional human mucopolysaccharidosis IVA chondrocyte culture reveals significant impairments in the lysosomal-mitochondrial crosstalk [PDF]

Scientific Reports
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder (LSD) caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase enzyme. MPS IVA patients suffer from skeletal dysplasia due to the abnormal function of chondrocytes.
Andrés Felipe Leal, Sampurna Saikia, Shaukat A. Khan, Shunji Tomatsu   +3 more
doaj   +2 more sources

A novel image-based classification system for atlantoaxial deformity caused by mucopolysaccharidosis type IVA: an efficacy evaluation [PDF]

Journal of Orthopaedic Surgery and Research
Study design Retrospective Study. Objective Type IVA mucopolysaccharidosis (MPS) is often associated with atlantoaxial deformity, and lacks a unified surgical treatment standard or classification system.
Qiu-Qi Zhang, Shangguan Wen-ji, Jia Song, Zhi-Hui Liang, Fu-Chao Zhou, Hai-Tao Liu, Jiang Shao, Yue-Hui Zhang   +7 more
doaj   +2 more sources

Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA [PDF]

Frontiers in Pediatrics
Treating Acute Lymphoblastic Leukemia (ALL) in patients with genetic disorders poses significant challenges for onco-hematologists. Mucopolysaccharidosis type IVA (MPS-IVA) is a lysosomal storage disorder that clinically manifests with progressive and ...
Sofia Maria Carlotta Arnaboldi, Sofia Maria Carlotta Arnaboldi, Martha Caterina Faraguna, Martha Caterina Faraguna, Antonella Colombini, Alessandra Sala, Veronica Leoni, Marco Spinelli, Giacomo Gotti, Laura Rachele Bettini, Laura Rachele Bettini, Viola Crescitelli, Anna Commone, Serena Gasperini, Carmelo Rizzari, Carmelo Rizzari   +15 more
doaj   +2 more sources

Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction [PDF]

Molecular Medicine
Background Biallelic pathogenic variants in the GALNS gene lead to Mucopolysaccharidosis Type IVA (MPS IVA), a rare lysosomal storage disorder.
Igor Bychkov, Elza Shchukina, Ekaterina Zakharova   +2 more
doaj   +2 more sources

The Birth Prevalence of Mucopolysaccharidosis Types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan Between 1984 and 2023 [PDF]

Diagnostics
Objectives: Mucopolysaccharidoses (MPSs) are a group of a rare inherited lysosomal storage diseases caused by a deficiency or complete lack of lysosomal enzymes participating in glycosaminoglycan (GAG) degradation, which leads to multisystemic impairment
Assel Tulebayeva, Gulnar Mukhambetova, Maira Sharipova, Anna Tylki-Szymanska   +3 more
doaj   +2 more sources