Results 171 to 180 of about 79,223 (329)
Information Theory Analysis of CTX Shows Consistent Clinical Presentation
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Cerebrotendinous xanthomatosis (CTX) is a rare, metabolic disorder caused by pathogenic variants in CYP27A1. The classic clinical presentation includes infantile‐onset chronic diarrhea, juvenile‐onset bilateral cataracts, with development of tendon xanthomas and progressive neurological dysfunction.
Jennifer Hanson, Penelope E. Bonnen
wiley +1 more source
Electrophysiological assessment of the retina in children with congenital nystagmus
Zdravniški Vestnik, 2012 Background: Electroretinography (ERG) enables assessment of the retinal function and facilitates the diagnostics of congenital nystagmus in children.
Alma Beharić +2 more
doaj
MedComm, Volume 6, Issue 11, November 2025.RPE‐targeted gene therapy restored melanin expression and relieved ocular dysfunction. By optimizing the injection method, a wider range of melanin expression and better therapeutic effects have been achieved. ABSTRACT Oculocutaneous albinism (OCA) represents a genetically heterogeneous autosomal recessive condition marked by reduced melanin production
Li Song +18 more
wiley +1 more source
A CASE OF NEURITIS SIMULATING PROGRESSIVE MUSCULAR ATROPHY ASSOCIATED WITH NYSTAGMUS AND INCREASED KNEE JERKS. [PDF]
, 1894 HAROLD N. MOYER
openalex +1 more source
Myelin basic protein in the cerebrospinal fluid of patients infected with HIV [PDF]
, 1989 Ackenheil, M. +12 more
core +1 more source
Three and Four Courses of Radiation for Children With Recurrent Diffuse Intrinsic Pontine Glioma
Pediatric Blood &Cancer, Volume 72, Issue 11, November 2025.ABSTRACT Purpose Re‐irradiation (RT2) for children with diffuse intrinsic pontine glioma (DIPG) is increasingly used upon recurrence; however, limited data are available for evaluating additional courses of radiotherapy (RT) for DIPG. The purpose of this case series was to report our institutional experience in treating patients with recurrent DIPG ...
Nisha Shariff +3 more
wiley +1 more source
Clinical Approach and Successful Intervention of Congenital Hydrocephalus in Neonatal Calf
Veterinary Medicine and Science, Volume 11, Issue 6, November 2025.A neonatal calf with congenital hydrocephalus, characterized by a dome‐shaped cranial vault, was treated with gradual drainage of cerebrospinal fluid and a horizontal mattress suture. The calf exhibited neurological improvement following surgery. At 12‐day follow‐up, normal behaviour and growth were observed with no neurological deficits.
Antora Akter +3 more
wiley +1 more source