Results 11 to 20 of about 1,973 (193)

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA. [PDF]

JIMD Rep, 2020
Mucopolysaccharidosis type IVA (MPS IVA) is an inborn error of glycosaminoglycan (GAG) catabolism characterized by a deficiency of the lysosomal enzyme, N‐acetylgalactosamine 6‐sulphatase (GALNS).
Chin SJ, Saville JT, McDermott BK, Zankl A, Fletcher JM, Fuller M.   +5 more
europepmc   +5 more sources

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome). [PDF]

PLoS One, 2016
Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions.
Kampmann C, Abu-Tair T, Gökce S, Lampe C, Reinke J, Mengel E, Hennermann JB, Wiethoff CM.   +7 more
europepmc   +5 more sources

Mucopolysaccharidosis type IVA and severe hidradenitis suppurativa: A case series. [PDF]

JAAD Case Rep
Fialová J, Kojanová M, Šáhó R, Magner M.   +3 more
europepmc   +5 more sources

Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels. [PDF]

Mol Genet Metab Rep, 2017
Morquio A disease (Mucopolysaccharidosis type IVA, MPS IVA) is one of the 11 mucopolysaccharidoses (MPSs), a heterogeneous group of inherited lysosomal storage disorders (LSDs) caused by deficiency in enzymes need to degrade glycosaminoglycans (GAGs ...
Donida B, Marchetti DP, Jacques CED, Ribas G, Deon M, Manini P, da Rosa HT, Moura DJ, Saffi J, Giugliani R, Vargas CR.   +10 more
europepmc   +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

Clinical Characteristics of a Patient with Mucopolysaccharidosis Type IVA (Morquio Syndrome)

Вопросы современной педиатрии, 2023
Mucopolysaccharidosis (MPS) type IVA (Morquio syndrome) is a hereditary lysosomal storage disease caused by deficiency of N-acetylglucosamine-6-sulfate sulfatase.
Nato D. Vashakmadze, Natalia V. Zhurkova, Ludmila K. Mikhaylova, Volha Ya. Smirnova, Grigorii V. Revunenkov   +4 more
doaj   +2 more sources

Elosulfase alfa in the treatment of mucopolysaccharidosis type IVA: insights from the first managed access agreement. [PDF]

Orphanet J Rare Dis, 2021
Managed access agreements provide a crucial mechanism whereby real-world data can be collected systematically to reduce uncertainty around available clinical and economic data, whilst providing the opportunity to identify patient sub-populations who are ...
Stevens B, Kenny T, Thomas S, Morrison A, Jarrett J, Jain M.   +5 more
europepmc   +2 more sources

Adjunct diagnostic value of radiological findings in mucopolysaccharidosis type IVa-related thoracic spinal abnormalities: a pilot study. [PDF]

Orphanet J Rare Dis, 2022
Background In patients with mucopolysaccharidosis (MPS), systematic assessment and management of cervical instability, cervicomedullary and thoracolumbar junction spinal stenosis and spinal cord compression averts or arrests irreversible neurological ...
Jan YT, Tsai PS, Huang WH, Huang SC, Liu YP, Cheng SM, Huang KS.   +6 more
europepmc   +2 more sources

Evaluation of AAV vectors with tissue-specific or ubiquitous promoters in a mouse model of mucopolysaccharidosis type IVA. [PDF]

Mol Ther Methods Clin Dev
Mucopolysaccharidosis type IVA (MPS IVA) is caused by a deficiency of N-acetyl-galactosamine-6-sulfate sulfatase (GALNS), leading to the accumulation of keratan sulfate and chondroitin-6-sulfate and development of severe skeletal dysplasia.
Khan SA, Álvarez JV, Nidhi FNU, Benincore-Florez E, Tomatsu S.   +4 more
europepmc   +2 more sources

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

Curr Issues Mol Biol
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.
Celik B, Saikia S, Khan S, Musini KS, Tomatsu S.   +4 more
europepmc   +2 more sources