Results 101 to 110 of about 1,596 (158)

Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts. [PDF]

Int J Mol Sci, 2023
Brokowska J, Gaffke L, Pierzynowska K, Węgrzyn G.   +3 more
europepmc   +1 more source

Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries. [PDF]

Orphanet J Rare Dis, 2022
Magner M, Almássy Z, Gucev Z, Kieć-Wilk B, Plaiasu V, Tylki-Szymańska A, Zafeiriou D, Zaganas I, Lampe C.   +8 more
europepmc   +1 more source

Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy. [PDF]

Int J Mol Sci, 2022
Piechnik M, Amendum PC, Sawamoto K, Stapleton M, Khan S, Fnu N, Álvarez V, Pachon AMH, Danos O, Bruder JT, Karumuthil-Melethil S, Tomatsu S.   +11 more
europepmc   +1 more source

EHA2024 Hybrid Congress

HemaSphere, Volume 8, Issue S1, June 2024.
wiley   +1 more source

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience. [PDF]

Orphanet J Rare Dis, 2021
Quijada-Fraile P, Arranz Canales E, Martín-Hernández E, Ballesta-Martínez MJ, Guillén-Navarro E, Pintos-Morell G, Moltó-Abad M, Moreno-Martínez D, García Morillo S, Blasco-Alonso J, Couce ML, Gil Sánchez R, Cortès-Saladelafont E, López Rodríguez MA, García-Silva MT, Morales Conejo M.   +15 more
europepmc   +1 more source

Mucopolysaccharidosis Type IVA [PDF]

, 2020
openaire   +1 more source

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

, 2016
Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions.
Seyfullah Gökce, Christiane M Wiethoff, Tariq Abu-Tair, Jörg Reinke, Christina Lampe, Christoph Kampmann, Eugen Mengel, Julia B Hennermann   +7 more
core   +1 more source

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
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   +1 more source

Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case. [PDF]

Intractable Rare Dis Res
Shu H, Shang X, Sun Y, Li G, Chen C, Yang J.   +5 more
europepmc   +1 more source

Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants. [PDF]

Mol Genet Metab Rep
Wahhab SBA, Thejeal RF.
europepmc   +1 more source