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The Prevalence and Clinical Characteristics of -Associated Hearing Loss in 15,684 Hearing Loss Patients.
Genes (Basel)
January 2025
Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
belongs to the unconventional myosin superfamily, and the myosin IIIa protein localizes on the tip of the stereocilia of vestibular and cochlear hair cells. Deficiencies in have been reported to cause the deformation of hair cells into abnormally long stereocilia with an increase in spacing. is a rare causative gene of autosomal recessive sensorineural hearing loss (DFNB30), with only 13 cases reported to date.
View Article and Find Full Text PDFTargeted and untargeted urinary metabolomics of alkaptonuria patients using ultra high-performance liquid chromatography-tandem mass spectrometry.
J Pharm Biomed Anal
January 2025
Institute of Pharmaceutical Sciences, Pharmaceutical (Bio-)Analysis, University of Tübingen, Auf der Morgenstelle 8, Tübingen 72076, Germany. Electronic address:
Alkaptonuria (AKU) is a rare autosomal-recessive disease which is characterized through black urine and ochronosis. It is caused by deficiency of the enzyme Homogentisate 1,2-dioxygenase in the Phenylalanine/Tyrosine degradation pathway which leads to the accumulation of Homogentisic acid (HGA). Urine was provided by AKU patients and healthy controls.
View Article and Find Full Text PDFThe knowledge, experience, and awareness of professionals working with older adults on the auditory-cognitive interactions.
J Commun Disord
December 2024
Department of Rehabilitation Sciences, Ghent University, Corneel Heymanslaan 10 (2P1), Ghent 9000, Belgium; Department of Oto-rhino-laryngology, Ghent University Hospital, Corneel Heymanslaan 10 (2P1), Ghent 9000, Belgium.
Introduction: Hearing loss is a commonly occurring condition with dementia. Research already presented a theoretical framework for the auditory-cognitive interactions, though it is still unclear if and how professionals beyond audiologists act upon this interactions in clinical practice.
Methods: An online 64-item questionnaire was developed and evaluated respondents' work setting as well as their knowledge, experience, and awareness regarding hearing loss, cognitive decline, and the auditory-cognitive link.
Choroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage disease.
Hum Mol Genet
January 2025
Section on Translational Neuroscience, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA.
The choroid plexuses (CP) are highly vascularized structures that project into the ventricles of the vertebrate brain. The polarized epithelia of the CP produce cerebrospinal fluid by transporting water and ions into the ventricles from the blood and normally secrete a large number of proteins. We assessed the feasibility of selective CP transduction with recombinant adeno-associated virus (rAAV) gene therapy vectors for treatment of lysosomal storage disease (LSD), a broad category of neurometabolic illness associated with significant burdens to affected patients and their families.
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