Results 161 to 170 of about 103,722 (368)

Uraemic syndrome following acute renal failure in horses

open access: yes
Equine Veterinary Education, Volume 37, Issue 5, Page 235-240, May 2025.
G. van Galen
wiley   +1 more source

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli   +13 more
wiley   +1 more source

Modification of vestibular responses as a function of rate of rotation about an earth-horizontal axis [PDF]

open access: yes
Vestibular response modifications as function of rotation rate about earth-horizontal ...
Correia, M. J., Guedry, F. E., Jr.
core   +1 more source

Audiovestibular Findings in Gaucher Disease Types I and III: Evidence of Vestibular Involvement in GD1

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Gaucher disease (GD), the most prevalent lysosomal storage disorder, is characterized by varying levels of systemic and neurological involvement. This study aims to investigate audiovestibular system involvement in patients with Gaucher disease type I (GD1) and type III (GD3) using audiometric and vestibular evaluations.
Elvan Onan   +6 more
wiley   +1 more source

Objective appraisal of tolerance to ventriculography with various radiocontrast media (according to electronystagmography data) [PDF]

open access: yes
The vestibulo oculomotor reflex (nystagmus) was recorded by means of electronystagmography in 33 neurosurgical patients in dynamics prior to and after ventriculography.
Blagoveshchenskaya, N. S.   +1 more
core   +1 more source

A Developmental Model of Congenital Nystagmus [PDF]

open access: yes, 2005
Purpose: Congenital nystagmus (CN) is a spontaneous oscillation of the eyes with an onset in the first few months of life. In 90% of affected children there is an associated underlying sensory defect (foveal hypoplasia, cone dysfunction, cataracts, etc.).
Berry, David L., Harris, Christopher M.
core  

Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real‐World Data Approach

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Neurodegeneration in metachromatic leukodystrophy (MLD) may be preceded by systemic complications. Characterization of these features is critical to define barriers to early diagnosis and treatment eligibility for gene therapy. We utilized medical billing (claims) datasets and a natural history study to capture pre‐diagnosis MLD‐related events.
Ali Mohajer   +5 more
wiley   +1 more source

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