8 citations
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December 2015 in “JAMA ophthalmology” A young man had vision loss, hair loss, and other symptoms, but tests showed mostly normal results except for slightly high protein in spinal fluid.
January 2025 in “Genetics in Medicine Open” Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
31 citations
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December 1997 in “Developmental Medicine & Child Neurology” Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
4 citations
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January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
1 citations
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July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.