Results 51 to 60 of about 5,452 (260)
American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
JIMD Reports, Volume 67, Issue 3, May 2026.ABSTRACT Cobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early‐onset form presents within the first few months of life, with some patients identified through newborn screening (NBS). However, despite early detection and optimal treatment, patient outcomes remain poor, with intellectual impairment and progressive ...
Arthavan Selvanathan +7 more
wiley +1 more source
Indian Journal of Ophthalmology, 2020 To report convergence excess esotropia (CEET) following 0.01% atropine eye drops (Low dose atropine [LDA]). Children who developed CEET that resolved promptly after discontinuation of LDA are described.
Mihir Kothari +5 more
doaj +1 more source
A new apparatus for visual field testing with binocular fixation [PDF]
, 1978 A new instrument for visual field examination with binocular fixation is described. The binocular vision was dissociated with polarizing plates. Only the point of fixation was visible to both eyes while the testing chart (Amsler chart) was visible to one
Hasegawa, Eiichi
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.A rare homozygous variant in the PGM2L1 gene (NM_173582.6: c.1673delC, p.Thr558Ilefs*19) was identified in a patient presenting with developmental delay, seizures, and bilateral frontotemporal subarachnoid widening. ABSTRACT Background PGM2L1 gene variants are associated with developmental delays, seizures, and various neurological and physical ...
Mengmeng Niu, Dong Wang, Shanshan Jia
wiley +1 more source
BMC Ophthalmology, 2022 Background To compare the effect of alternate part-time patching and pencil push-up training on control ability in patients with intermittent exotropia.
Desheng Song +4 more
doaj +1 more source
Clinical trajectories and medication response in TBC1D24‐related epilepsies
Epilepsia, Volume 67, Issue 3, Page 1386-1397, March 2026.Abstract Objective Biallelic variants in TBC1D24 represent a rare cause of epilepsy and neurodevelopmental disorders, including severe developmental and epileptic encephalopathies. Here, we present the first attempt to delineate the longitudinal disease histories and effectiveness of antiseizure medications (ASMs) in TBC1D24‐related disorders.
Ealing Mondragon +9 more
wiley +1 more source
Botulinum toxin treatment for horizontal strabismus in children with cerebral palsy [PDF]
, 2006 To evaluate the efficacy of botulinum toxin injection in the treatment of horizontal strabismus in children with cerebral palsy. METHODS: A group of 24 patients, age 6 - 156 months, with cerebral palsy and horizontal strabismus (17 esotropias ranging ...
Bicas, Harley Edison do Amaral +2 more
core +2 more sources
Health‐related quality of life of children with strabismus
Acta Ophthalmologica, Volume 104, Issue 1, Page 82-88, February 2026.Abstract Purpose The agreement between children with strabismus and their parents on the health‐related quality of life (HRQOL) of the child is unknown. Additionally, it is unknown if physical traits pre‐dispose to a better outcome in HRQOL after strabismus surgery in children.
Lena Boulakh +5 more
wiley +1 more source
A review of 5 years exotropia surgery outcome in Songklanagarind Hospital
Journal of Health Science and Medical Research (JHSMR), 2009 Objective: To study the outcomes and factors of muscle surgery for exotropia at Songklanagarind Hospital. Material and Methods: A review was made of medical records for patients who had muscle surgery for exotropia between January 1999 and December 2003.
S. Burachokeviwat +2 more
doaj