Results 61 to 70 of about 4,093 (193)

Best abstracts from the APAGBI Annual Scientific Meeting 2024 [PDF]

Paediatr Anaesth
Pediatric Anesthesia, Volume 35, Issue 2, Page 185-191, February 2025.
europepmc   +2 more sources

I-gel assisted fiberoptic intubation in a child with Morquio′s syndrome

Saudi Journal of Anaesthesia, 2015
Morquio′s syndrome, also known as mucopolysaccharidosis type IV is an autosomal recessive disorder, caused by deficiency of n-acetylgalactosamine-6-sulphate.
Sangeeta Dhanger, Sethuramachandran Adinarayanan, Stalin Vinayagam, Mohanasundaram Praveen Kumar   +3 more
doaj   +1 more source

Síndrome de Morquio, una afección infrecuente

Revista Eugenio Espejo, 2020
Introducción: el síndrome de Morquio es una rara enfermedad hereditaria autosómica recesiva, caracterizada por la presencia de un trastorno del metabolismo de los glúcidos, generando disminución de la calidad de vida.
Deyssy Viviana Crespo Vallejo, Dra., Valeria Alexandra Rodríguez Pacheco, Dra., Mayra Alejandra Ruiz Ayerve, Dra.   +2 more
doaj   +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

Assessment and management of over-activity and sleep disorder in mucopolysaccharidoses [PDF]

, 2018
There is a growing awareness, based on both research and clinical studies, that abnormal sleep and circadian functioning are associated with the various forms of mucopolysaccharidoses (MPS), with sleep respiratory problems seemingly common in many forms ...
Hare, Dougal, Mahon, Louise, Rust, Stewart   +2 more
core   +2 more sources

Construcción de un vector de expresión derivado de virus adenoasociados para corregir in vitro el defecto genético de la enfermedad de Morquio A

Biomédica: revista del Instituto Nacional de Salud, 2008
Introducción. La mucopolisacaridosis IV A (Morquio A) es una enfermedad de depósito lisosómico causada por la deficiencia en la actividad de la enzima N-acetil-galactosamina- 6-sulfato-sulfatasa que produce la acumulación intralisosómica de queratán y ...
Luis Alejandro Barrera, Mónica A. Gutiérrez, Felipe García Vallejo, Shunji Tomatsu, Flavio Cerón, Carlos J. Alméciga Díaz, Martha C. Domínguez   +6 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

Hematopoietic stem cell transplantation for Morquio A syndrome [PDF]

Molecular Genetics and Metabolism, 2016
Morquio A syndrome features systemic skeletal dysplasia. To date, there has been no curative therapy for this skeletal dysplasia. No systemic report on a long-term effect of hematopoietic stem cell transplantation (HSCT) for Morquio A has been described.
Hiromasa, Yabe, Akemi, Tanaka, Yasutsugu, Chinen, Shunichi, Kato, Kazuki, Sawamoto, Eriko, Yasuda, Haruo, Shintaku, Yasuyuki, Suzuki, Tadao, Orii, Shunji, Tomatsu   +9 more
openaire   +2 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

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