Results 111 to 120 of about 45,424 (315)
, 2016 Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
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Nanotherapy for Neural Retinal Regeneration
Advanced Science, EarlyView.Nanotechnology enhances ophthalmic treatments by improving drug delivery and regenerating ocular tissues, combating vision loss from retinal diseases through innovative nano‐systems. This review outlines ocular anatomy, pathology, immune microenvironment, and barriers, detailing nanocarrier characteristics, classification, and preparation methods, and ...
Chuyao Yu +11 more
wiley +1 more source
Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA
Scientific ReportsLysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López +2 more
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Advanced Science, EarlyView.This study shows that gene replacement therapy using the AAV2/Anc80L65 virus can successfully restore hearing and balance in Ush1c knockout mice. The treatment leads to lasting improvements in both auditory and vestibular functions, highlighting its potential as a therapeutic approach for genetic hearing loss and vestibular disorders in humans ...
Weinan Du +13 more
wiley +1 more source
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
Case Reports in Pediatrics, 2018 Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati +4 more
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The Reconstruction of Peripheral Auditory Circuit: Recent Advances and Future Challenges
Advanced Science, EarlyView.This paper summarizes the potential of biomaterials, stem cells, and gene editing technologies in the regeneration of inner ear hair cells, spiral ganglion neurons, and inner ear organoids. Challenges and potential developments are discussed and explored.
Zhe Li +3 more
wiley +1 more source
Evidence-based Decision-making on Management of Arteriovenous Malformation of Face
Indian Journal of Vascular and Endovascular SurgeryArteriovenous malformations (AVMs) are uncommon inborn vascular anomaly, making for about 1.5% of all vascular aberrations. Remarkably, approximately half of AVM cases manifest in the mouth cavity and faciomaxillary region.
Navin Shah +3 more
doaj
Inborn Errors of Metabolism: The Croonian Lectures Delivered Before the Royal College of Physicians of London, in June, 1908. [PDF]
, 1909 openalex +1 more source
Advanced Science, EarlyView.By investigating auditory hyperexcitability in a mouse model for hereditary deafness, this study identified a subpopulation of afferent neurons of the auditory nerve marked by Otogl expression. Despite their apparently normal hearing, Otogl+/− mice display poor activation of afferent neurons processing loud sounds and an elevation of the middle the ear
Mathilde Gagliardini +24 more
wiley +1 more source
Nutrition Reviews, 2009 Abstract Understanding metabolic disease can be difficult in its own right. Under stressful situations such as those involving a sick infant, it becomes much more difficult. This resource is a talk whose purpose is to provide a simple framework with which to expeditiously diagnose a sick child who has a metabolic disorder.
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