Results 51 to 60 of about 21,613 (172)
, 2011 International audienceBackground Upper airway obstruction is common in children with mucopolysaccharidosis. The acoustic reflection method is a noninvasive technique that can analyse the calibre of the upper airways.
Louis, Bruno +9 more
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Pitfalls in diagnosing and long‐term management of ceroid lipofuscinosis NCL4A in a mixed‐breed dog
Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.Abstract An 8‐year‐old, spayed, female, mixed‐breed dog was presented with a 9‐month history of occasionally stumbling on walks, having difficulty navigating stairs and jumping into the car. A prior computed tomography scan of the head revealed mild leptomeningeal enhancement and suggested meningoencephalitis.
Ingeborg Hein +3 more
wiley +1 more source
Mucopolysaccharidoses and the blood–brain barrier
Fluids and Barriers of the CNS, 2022 Mucopolysaccharidoses comprise a set of genetic diseases marked by an enzymatic dysfunction in the degradation of glycosaminoglycans in lysosomes. There are eight clinically distinct types of mucopolysaccharidosis, some with various subtypes, based on ...
Onur Sahin +4 more
doaj +1 more source
Mucopolysaccharidosis: MRI Study
, 1992 Characteristic changes in the MRI of 2 brothers with mucopolysaccharidosis type I are reported from the Departments of Paediatrics, Neuroradiology and Neurology, University of Ancona ...
J Gordon Millichap, Millichap, J. Gordon
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Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature [PDF]
, 2021 Mucopolysaccharidosis are genetic disorders due to deficiency of lysosomal enzymes, resulting in abnormal glycosaminoglycans accumulation in several tissues. Heart involvement tends to be progressive and worsens with age.
Ragni L. +19 more
core +1 more source
JIMD Reports, 2020 Background Morquio‐B disease (MBD) is a distinct GLB1‐related dysostosis multiplex involving the trabecular parts of long bones and spine, presenting a mild phenocopy of GALNS‐related Morquio‐A disease.
Iman S. Abumansour +3 more
doaj +1 more source
Proteomic Signatures of Noise‐Induced Hearing Loss in the Mouse Cochlea
Cell Biology International, Volume 50, Issue 10, October 2026.ABSTRACT Hearing loss affects over 1.5 billion people worldwide and has substantial social, educational, and economic consequences. Although genetic studies have identified numerous hearing‐loss‐associated genes, the molecular changes accompanying noise‐induced hearing loss (NIHL) remain incompletely understood.
Ana Carla Batissoco +6 more
wiley +1 more source
Assessment tools in Mucopolysaccharidosis: a Scoping Review Protocol
, 2023 We aim to synthesize the evidence and knowledge gaps regarding existing assessment tools that contribute to the diagnosis, follow-up, evaluation, and stratification of patients with ...
SPINE Online | RDCom
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Identifying High‐Risk Children Safe for Same‐Day Discharge After Tonsillectomy
The Laryngoscope, Volume 136, Issue 10, Page 4497-4504, October 2026.ABSTRACT Objective Current guidelines recommend overnight admission for children with severe obstructive sleep apnea (OSA) and obesity undergoing tonsillectomy, although most have uneventful postoperative courses. We aimed to identify low‐risk subgroups within this high‐risk population who may be candidates for same‐day discharge. Methods Retrospective
Amy Ho +9 more
wiley +1 more source
, 2023 STROBE checklist for ‘Prevalence Rates of Mucopolysaccharidosis in Iraq: a retrospective cross-sectional observational ...
Furqan M. Abdulelah
core +1 more source