Results 61 to 70 of about 1,973 (193)

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome [PDF]

, 2016
OBJECTIVE: To present long-term respiratory function outcomes from an open-label, multi-center, phase 3 extension study (MOR-005) of elosulfase alfa enzyme replacement therapy (ERT) in patients with Morquio A syndrome.
AlSayed, MD, Berger, KI, Burton, BK, Decker, C, Giugliani, R, Guelbert, N, Harmatz, PR, Hendriksz, CJ, Hughes, DA, Jurecki, E, Matousek, R, Mitchell, JJ, Parini, R, Raiman, J, Stewart, F   +14 more
core   +2 more sources

Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI [PDF]

Diagnostics, 2020
Mucopolysaccharidosis (MPS) is a rare genetic disease involving active storage of glycosaminoglycans (GAGs). Accumulation of GAGs in the connective tissues of airways leads to progressive pulmonary dysfunction. Studies conducted in Taiwan revealed mainly restrictive pulmonary dysfunction, whereas the same studies in Egypt and California revealed ...
Assel Tulebayeva, Maira Sharipova, Riza Boranbayeva   +2 more
openaire   +3 more sources

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

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   +1 more source

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa [PDF]

, 2017
Background: This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period.
Giugliani, R, Guffon, N, Hawley, SM, Hughes, D, Jones, SA, Matousek, R, Mengel, KE, Parini, R, Quartel, A   +8 more
core   +2 more sources

Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene

Stem Cell Research
Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder (LSD) caused by a deficiency of enzyme N-acetylgalactosamine-6-sulfatase (GALNS), characterised by systemic skeletal dysplasia and joint abnormalities with ...
Federica Feo, Silvia Falliano, Anna Caciotti, Marina Rinaldi, Alessia Caroli, Laura Giunti, Martino Calamai, Elena Procopio, Renzo Guerrini, Amelia Morrone, Rodolfo Tonin   +10 more
doaj   +1 more source

Development of Bone Targeting Drugs. [PDF]

, 2017
The skeletal system, comprising bones, ligaments, cartilage and their connective tissues, is critical for the structure and support of the body. Diseases that affect the skeletal system can be difficult to treat, mainly because of the avascular cartilage
Alméciga-Díaz, Carlos J., Mackenzie, William G., Mason, Robert W., Orii, Tadao, Sawamoto, Kazuki, Stapleton, Molly, Tomatsu, Shunji   +6 more
core   +2 more sources

Processes for Developing Plain Language Versions of Guidelines Recommendations: A Scoping Review

Journal of Evaluation in Clinical Practice, Volume 31, Issue 6, September 2025.
ABSTRACT Rationale Plain language recommendations (PLRs) offer clear and understandable statements based on trustworthy guidelines. Objective We aimed to synthesise methodological evidence for developing PLRs in the health care context. Methods We followed the JBI methodology for scoping review development and the PRISMA‐ScR guidelines for scoping ...
Alena Langaufova, Tereza Friessova, Dana Dolanova, Tereza Vrbova, Petra Burilova, Natalia Beharkova, Andrea Pokorna   +6 more
wiley   +1 more source

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease [PDF]

, 2018
Background Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (GALNS) gene.
Caciotti, Anna, Cooper, David N., Deodato, Federica, Gasperini, Serena, Guerrini, Renzo, Morrone, Amelia, Mort, Matthew, Parenti, Giancarlo, Parini, Rossella, Rigoldi, Miriam, Sibilio, Michelina, Taurisano, Roberta, Tonin, Rodolfo   +12 more
core   +4 more sources

Erratum to: Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways [PDF]

, 2015
BACKGROUND: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is a rare disease with a high mortality rate.
Beizhan Jiang, Jianhua Yang, Jinfeng Xue, Junjun Liu, Rongbin Wei, Shangfeng Liu, Shouliang Zhao, Tienan Feng, Wenping Cai, Xiaoping Wang, Zhenghu Chen   +10 more
core   +3 more sources

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

, 2021
Elosulfasa alfa; Qualitat de vida relacionada amb la salut; Síndrome de Morquio AElosulfasa alfa; Calidad de vida relacionada con la salud; Síndrome de Morquio AElosulfase alfa; Health-related quality of life; Morquio A syndromeBackground ...
Arranz Canales, Elena, Ballesta‑Martínez, María Juliana, Guillén‑Navarro, Encarna, Martín‑Hernández, Elena, Moltó Abad, Marc Miquel, Moreno Martinez, David, Pintos Morell, Guillem, Quijada‑Fraile, Pilar   +7 more
core   +1 more source