Results 51 to 60 of about 200,407 (146)
Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.ABSTRACT Long‐chain fatty acid oxidation disorders (LC‐FAOD) are rare inherited defects of mitochondrial β‐oxidation that impair energy generation during fasting or metabolic stress. Clinical manifestations range from neonatal hypoketotic hypoglycemia and cardiomyopathy to hepatopathy, recurrent rhabdomyolysis, and chronic myopathy.
Sarah C. Grünert +37 more
wiley +1 more source
Acta Ophthalmologica, Volume 104, Issue 6, Page e709-e717, September 2026.Abstract Purpose To explore whether threshold perimetry can predict fulfilment of the current Swedish and current Norwegian Esterman perimetry standards for Group 1 driver's licence, and differences in compliance between the former and current Swedish visual field standards.
Wid Saadi, Tomas Bro, Susanna Sagerfors
wiley +1 more source
, 2018 Introduction Recurrent corneal erosions in corneal dystrophies are visually significant and bothersome to patients. The goal of this article is to review the pathogenesis, differential diagnosis, and management of recurrent corneal erosions in corneal ...
Shahzad Mian, Amro Omari
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Targeting PIKfyve: Chemical Biology and Drug Discovery Insights
Chemical Biology &Drug Design, Volume 108, Issue 3, September 2026.PIKfyve inhibitors have progressed from niche chemical probes to powerful tools for interrogating endolysosomal biology, enabled by rapid and robust cellular phenotypes. Compounds such as apilimod establish PIKfyve as a druggable lipid kinase, while agents like vacuolin‐1 underscore the importance of distinguishing true target engagement from ...
Athavan Alias Anand Selvam +1 more
wiley +1 more source
Corneal dystrophies: Molecular genetic studies and mutational analysis of candidate genes [PDF]
, 2003 Corneal dystrophies are a clinically heterogeneous group of rare inherited ocular disorders that often result in a reduction in visual acuity. These dystrophies can be inherited as either an autosomal dominant or autosomal recessive trait, which can ...
Ebenezer, Neil David
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Childhood blindness in the context of VISION 2020: the right to sight
Bulletin of the World Health Organization, 2001 The major causes of blindness in children vary widely from region to region, being largely determined by socioeconomic development, and the availability of primary health care and eye care services.
Gilbert Clare, Foster Allen
doaj
Cell adhesion molecules in stromal corneal dystrophies [PDF]
, 2008 The aim of the present study was to investigate the expression pattern of different cell adhesion molecules in corneal stromal dystrophies. Fifteen corneal buttons from patients diagnosed with three different types of stromal corneal dystrophies and
Berta, Andras +6 more
core
Genetics of Refractive Error, Cataract, Corneal dystrophies and keratoconus
, 2016 The file is a lecture given to graduate level students on the genetics of cataract, corneal dystrophies, keratoconus and the heritability of refractive ...
MacDonald, Ian M.
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Energy Shortage in Human and Mouse Models of SLC4A11-Associated Corneal Endothelial Dystrophies [PDF]
, 2020 PurposeTo elucidate the molecular events in solute carrier family 4 member 11 (SLC4A11)-deficient corneal endothelium that lead to the endothelial dysfunction that characterizes the dystrophies associated with SLC4A11 mutations, congenital hereditary ...
Chung, Doug D +9 more
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Pathophysiology of corneal dystrophies: from cellular genetic alteration to clinical findings
, 2016 Corneal dystrophies are a heterogeneous group of bilateral, inherited, rare diseases characterized by slowly progressive corneal opacities, that lead to visual impairment.
Marta Sacchetti +11 more
core +1 more source