August 2021 in “Journal of medical science and clinical research” This case report describes an 11-month-old infant with Biotinidase deficiency who exhibited multifocal seizures, neuroregression, alopecia, and skin issues, highlighting prompt diagnosis and the dramatic clinical response to biotin treatment.
12 citations
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September 2011 in “BMJ Case Reports” This case report describes a 2-month-old male with biotinidase deficiency whose seizures and skin symptoms improved dramatically with oral biotin supplementation.
January 2018 in “Journal of Diabetic Association Medical College.” This case study reports a two and a half-month-old with biotinidase deficiency who showed rapid seizure improvement with biotin treatment after presenting with convulsions and neurological symptoms.
184 citations
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August 1983 in “The journal of pediatrics/The Journal of pediatrics” In this study, biotinidase deficiency in children usually presented with neurological or skin symptoms, while metabolic ketoacidosis and organic aciduria appeared later.
1 citations
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November 2011 in “Turkish Journal of Dermatology” In this case report, a 6-year-old male with biotinidase deficiency experienced marked improvement in dermatological symptoms, including alopecia and periorificial lesions, following biotin treatment.