Results 71 to 80 of about 1,770 (187)

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

Enfermedad de Morquio. Reporte de un caso [PDF]

, 2018
La mucopolisacaridosis tipo IV-A (enfermedad de Morquio) es una enfermedad autosómica recesiva por acúmulo lisosomal, causada por mutaciones en el gen de la N-acetylgalactosamine-6-sulfato sulfatasa, que resulta en la falta de catabolismo de dos ...
López López, José Manuel, Pompa Carrazana, Susana Grey, Duany Almira, Luis Félix, Sánchez Guerra, José Alberto   +3 more
core  

Bilateral total hip arthroplasty in Morquio-Brailsford's Syndrome: a report of two cases

, 2008
We report two cases of bilateral cementless total hip arthroplasty in two young women affected by Morquio-Brailsford syndrome. Morquio-Brailsford disease belongs to the mucopolysaccharidoses; it shows growth retardation with disproportional dwarfism ...
Boriani L, TONI, ALDO, Traina F, Dallari D, Tassinari E, GIUNTI, ARMANDO   +5 more
core   +1 more source

Anaesthesia considerations in a case of Morquio syndrome with bilateral mechanical vertebral artery occlusion: a case report

, 2021
Morquio syndrome (MS) or mucopolysaccharidosis (MPS) type IVA is a progressive lysosomal storage disorder with autosomal recessive inheritance. Deficiency of enzymes N-acetyl-galactosamine-6-sulphatase and beta-galactosidase which compromises the ...
Nagtilak, Harshada Hanamant, Shah, Nishita, Daftary, Swati, Mehta, Hemant   +3 more
core   +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

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

Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype

JIMD Reports, 2021
Background Morquio B disease (MBD) is a distinct GLB1‐related dysostosis multiplex presenting a mild phenocopy of GALNS‐related Morquio A disease. Previously reported cases from European countries carry the W273L variant on at least one GLB1 allele and ...
Sylvia Stockler‐Ipsiroglu, Nahid Yazdanpanah, Mojgan Yazdanpanah, Marioara Moisa Popurs, Nataliya Yuskiv, Mara Lúcia Schmitz Ferreira Santos, Chong Ae Kim, Carolina Fischinger Moura de Souza, Charles Marques Lourenço, Carlos Eduardo Steiner, Andressa Federhen, Luciana Giugliani, Débora Maria Bastos Pereira, Luz Elena Durán‐Carabali, Roberto Giugliani   +14 more
doaj   +1 more source

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   +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

Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16

, 2012
Morquio A syndrome (MPS IVA) is a recessive lysosomal storage disorder (LSD) caused by mutations in GALNS gene leading to the deficiency of lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS).
Papadia F., Giunti L., Donati M. A., Genuardi M., Guerrini R, GABRIELLI, ORAZIO, Morrone A., Catarzi S.   +7 more
core   +2 more sources