Results 11 to 20 of about 2,254 (171)

Pain management challenges in a patient with mucopolysaccharidosis IVA [PDF]

Clinical Case Reports
Key Clinical Message It is important to consider all potential pain management modalities including alternative treatment on managing complex pain presentations.
Marcus Gurgius, Sarah Donoghue, Robyn A. Wallace   +2 more
doaj   +5 more sources

Diagnosing mucopolysaccharidosis IVA. [PDF]

J Inherit Metab Dis, 2013
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of
Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ.   +21 more
europepmc   +9 more sources

Role of elosulfase alfa in mucopolysaccharidosis IVA [PDF]

The Application of Clinical Genetics, 2016
Debra S Regier, Pranoot Tanpaiboon Division of Genetics and Metabolism, Children’s National Medical Center, Washington, DC, USA Abstract: Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive lysosomal storage disease
Regier DS, Tanpaiboon P
doaj   +6 more sources

Atypical presentation of mucopolysaccharidosis type IVA

Molecular Genetics and Metabolism Reports, 2016
A 14 year old patient with short stature, type I diabetes, and cataracts was referred for evaluation of avascular necrosis of the femoral head. Radiography was suggestive of spondyloepiphyseal dysplasia with decreased bone mineral density for age ...
Eric T. Rush
doaj   +4 more sources

Mucopolysaccharidosis type IVA in children: Clinical cases

Кубанский научный медицинский вестник, 2022
Background. Mucopolysaccharidosis type IVA (Morquio syndrome) is a rare genetic lysosomal storage disease. Due to rarity, the syndrome is typically diagnosed at a later stage of gross affections of musculoskeletal and central nervous systems, leading to ...
A. V. Burlutskaya, N. V. Savel′eva, G. V. Naumenko   +2 more
doaj   +3 more sources

Delayed diagnosis of mild mucopolysaccharidosis type IVA

BMC Medical Genomics
Background Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic variants in the N-acetylgalactosamine-6-sulfatase (GALNS) gene and is characterized by progressive and multi-system involvements, dominantly with skeletal ...
Mengni Yi, Pinquan Shen, Huiwen Zhang
doaj   +3 more sources

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants. [PDF]

Hum Mutat, 2021
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene.
Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Tonin R, Wood T, Morrone A, Tomanin R.   +17 more
europepmc   +3 more sources

Mucopolysaccharidosis Type IVA: Extracellular Matrix Biomarkers in Cardiovascular Disease

Frontiers in Cardiovascular Medicine, 2022
Cardiovascular disease (CVD) in Mucopolysaccharidosis Type IVA (Morquio A), signified by valvular disease and cardiac hypertrophy, is the second leading cause of death and remains untouched by current therapies.
Brittany Montavon, Linda E. Winter, Qi Gan, Amirhossein Arasteh, Adriana M. Montaño, Adriana M. Montaño   +5 more
doaj   +3 more sources

Collagen Type II-Targeting Lentiviral Gene Therapy for Mucopolysaccharidosis IVA [PDF]

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   +2 more sources

In vivo direct lentiviral gene therapy improves disease pathology in a mucopolysaccharidosis IVA murine model [PDF]

Molecular Therapy: Methods & Clinical Development
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder that causes the accumulation of keratan sulfate (KS) and chondroitin-6-sulfate in bone and cartilage.
Betul Celik, Estera Rintz, Shaukat Khan, Andrés Felipe Leal, Fnu Nidhi, Shunji Tomatsu   +5 more
doaj   +2 more sources