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Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy.
Acta Neurol Belg
January 2025
Department of Pediatrics, Neurology Unit, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Turkey.
Introduction: Zellweger spectrum disorder (ZSD) refers to a group of autosomal recessive genetic disorders that affect multiple organ systems and are predominantly caused by pathogenic variants in PEX genes. ZSD present a wide clinical spectrum, ranging from the most severe form, Zellweger syndrome, to the mildest form, Heimler syndrome.
Case Report: A 14-month-old male patient was brought to our clinic with recent-onset ocular tremors and unsteady gait.
The role of Vitamin C in the prevention of corneal endothelial loss post phacoemulsification.
Int Ophthalmol
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Ophthalmology Department, Shrewsbury and Telford Hospitals NHS Trust, Shrewsbury, UK.
Severe Vitamin D Deficiency Mimicking Bone Tumor in an Adolescent.
Indian J Pediatr
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Functional effect of physical exercise on calcium metabolism.
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Low serum vitamin D is associated with egg white sensitization at age 1 year.
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