July 2021 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This study highlighted knuckle hyperpigmentation as an early sign of vitamin B12 deficiency, indicating a potential link to megaloblastic anemia in the vegetarian population in India.
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.
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.
4 citations
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July 2019 in “Clinical and experimental dermatology” This abstract does not provide specific study results or findings, but it notes that the publisher is not responsible for the supplemental content's accuracy and functionality, directing any queries to the article's corresponding author.
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.