72 citations
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October 1988 in “Archives of Disease in Childhood” This study found that while biotin treatment improves clinical and biochemical symptoms in patients with biotinidase deficiency, some experience lasting neurological damage, and it is uncertain if early treatment can prevent this.
September 2023 in “Medicina-lithuania” In this study, DNA analysis of patients with androgenetic alopecia and alopecia areata indicated potential differences in treatment response based on genetic makeup across Romanian and Brazilian populations, notably involving genes like GR-alpha and SULT1A1, which may guide personalized treatment strategies.
73 citations
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October 2001 in “Epilepsia” In this study, valproic acid treatment was associated with reduced biotinidase activity and improved skin lesions after biotin supplementation in children with seizures.
8 citations
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December 2019 in “Molecular genetics and metabolism reports” This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.