8 citations
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December 2015 in “JAMA ophthalmology” This abstract contains no research results; it's a website navigation menu and institutional policy information from JAMA Ophthalmology.
January 2025 in “Genetics in Medicine Open” This case report highlights a 33-year-old male initially misdiagnosed with Neuromyelitis Optica, whose symptoms may improve with biotin treatment due to late onset biotinidase deficiency.
31 citations
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December 1997 in “Developmental Medicine & Child Neurology” This case report describes a 5-year-old girl with biotinidase deficiency who had acute visual loss and gait disturbance but no typical symptoms, responding well to biotin therapy.
4 citations
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January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” This report highlights a case of adrenoleukodystrophy, a rare disease, diagnosed in a young boy with neuropsychiatric symptoms and Addison's disease, stressing the importance of early diagnosis and genetic counseling.
1 citations
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July 2024 in “Indian Journal of Case Reports” This article presents a case study of a 16-year-old male with GAPO syndrome, characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy, who sought dental treatment for missing teeth.