Results 71 to 80 of about 21,517,347 (239)

Safety, immunogenicity, and clinical outcomes in patients with Morquio A syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002/MOR-100), representing 5 years of treatment.

Molecular Genetics and Metabolism, 2018
Elosulfase alfa is an enzyme replacement therapy for Morquio A syndrome (mucopolysaccharidosis IVA), a multisystemic progressive lysosomal storage disorder. This report includes the primary treatment outcomes and immunogenicity profile of elosulfase alfa
C. Hendriksz, S. Santra, Simon A. Jones, T. Geberhiwot, Lynne A. Jesaitis, B. Long, Yulan Qi, Sara M. Hawley, C. Decker   +8 more
semanticscholar   +1 more source

Neuronal Ceroid Lipofuscinosis—Concepts, Classification, and Avenues for Therapy

CNS Neuroscience &Therapeutics, Volume 31, Issue 2, February 2025.
This review comprehensively examined the pathogenic genes associated with various NCL subtypes, elucidating their roles, clinical presentations, corresponding mouse models, and the advances in clinical study of potential therapeutics. In particular, we clarified the potential of novel microglial cell replacement therapies in NCLs, providing hope for ...
Yuheng Zhang, Bingying Du, Miaozhan Zou, Bo Peng, Yanxia Rao   +4 more
wiley   +1 more source

Anesthetic management in a patient with morquio syndrome

, 2015
Morquio Syndrome is an autosomal recessive lysosomal storage disease. It is one of the subgroup of mucopolysaccharidosis (MPS IV). Anesthesiologist usually deal with patients diagnosed Morquio Syndrome as they require repeated anesthesia administrations ...
Alkan, M., Unal, Y., ALKAN, METİN, Dikmen, B., Ozen, S.B., Dikmen, BAYAZİT, Uysal, Mukerrem, ÜNAL, YUSUF, Ozen, Sevil Baltaci, Uysal, M.   +9 more
core   +1 more source

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.

Molecular Genetics and Metabolism, 2017
BACKGROUND Long-term safety and efficacy of elosulfase alfa enzyme replacement therapy (ERT) were assessed in 173 patients with Morquio A syndrome (mucopolysaccharidosis IVA) in a 96-week, open-label, multi-center, phase 3 extension study (MOR-005) of ...
C. Hendriksz, R. Parini, M. AlSayed, J. Raiman, R. Giugliani, John J. Mitchell, B. Burton, N. Guelbert, F. Stewart, D. Hughes, Robert A. Matousek, Sara M. Hawley, C. Decker, P. Harmatz   +13 more
semanticscholar   +1 more source

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 Conundrum: Unveiling a Rare Case of Morquio Syndrome with Rheumatic Heart Disease [PDF]

Journal of Clinical and Diagnostic Research
A genetic lysosomal storage condition called Mucopolysaccharidosis (MPS) causes a variety of enzyme deficits that result in the build-up of specific glycosaminoglycans in the tissues. These deposits impact several systems, resulting in chronic morbidity,
Krupa Bhanushali, Keta Vagha, Ashish Varma, Amar Taksande   +3 more
doaj   +1 more source

Suspected Posttraumatic Mandibular Coronoid Hyperplasia and Condylar Hypoplasia: Two Case Reports and Literature Review

Case Reports in Dentistry, Volume 2025, Issue 1, 2025.
Changes in the size of the coronoid process, due to hyperplasia or hypoplasia, may interfere with the normal range of mouth opening. Coronoid hyperplasia is a rare oral and maxillofacial disease which might result in progressive limitation of mouth opening due to the impingement of an abnormal elongated mandibular coronoid process on the zygomatic arch.
Areeg Elmusrati, Mariela Padilla, Asja Celebic   +2 more
wiley   +1 more source

Understanding bias when estimating life expectancy from age at death: a simulation approach applied to Morquio syndrome A

BMC Research Notes, 2022
Objective Life expectancy can be estimated accurately from a cohort of individuals born in the same year and followed from birth to death. However, due to the resource-consuming nature of following a cohort prospectively, life expectancy is often ...
Xue Yin, Jaeil Ahn, Simina M. Boca
doaj   +1 more source

A molecular and histological characterization of cartilage from patients with Morquio syndrome

, 2007
SummaryObjectiveTo investigate the gene expression profile and the histological aspects of articular cartilage of patients affected by Morquio syndrome, a lysosomal storage disease characterized by the accumulation of glycosaminoglycans within the cells ...
G. Desando, Roseti, L., Facchini, A., Desando, G., B. Grigolo, L. Roseti, FACCHINI, ANDREA, Desando G., Grigolo, B., De Franceschi L., De Franceschi, L., Roseti L., GRIGOLO, BRUNELLA, L. De Franceschi, A. Facchini   +14 more
core   +1 more source

Versatile and Efficient Protein Association Through Chemically Modified Sphingomyelin Nanosystems (SNs) for Enhanced Delivery

ChemBioChem, Volume 25, Issue 23, December 2, 2024.
Graphic representation of the work carried out in this research, the main objective of which was the development of a nanoplatform for the efficient delivery of proteins (Protein Sphingomyelin Nanosystems; P‐SNs), regardless of their molecular weight (MW), net charge, or isoelectric point (pI).
Marcelina Abal‐Sanisidro, Olaia Nieto‐García, Cristina Cotelo‐Costoya, María de la Fuente   +3 more
wiley   +1 more source