Biotinidase deficiency: an atypical presentation

التفاصيل البيبلوغرافية
العنوان: Biotinidase deficiency: an atypical presentation
المؤلفون: Sujatha, Jagadeesh, Beena, Suresh, Suresh, Seshadri, Yoichi, Suzuki
المصدر: The National medical journal of India. 26(1)
سنة النشر: 2013
مصطلحات موضوعية: Biotinidase Deficiency, Fatal Outcome, Seizures, Infant, Newborn, Humans, Ichthyosis, Alopecia, Female
الوصف: Biotinidase deficiency is a rare metabolic disorder which can cause dermatological manifestations and lead to severe neurological sequelae if untreated. Holocarboxylase synthetase deficiency also has similar manifestations and needs to be differentiated. We present a neonate who had atypical early onset symptoms and was diagnosed to have biotinidase deficiency.
تدمد: 0970-258X
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8ccccca22e222424466388946a9ada83
https://pubmed.ncbi.nlm.nih.gov/24066991
رقم الأكسشن: edsair.pmid..........8ccccca22e222424466388946a9ada83
قاعدة البيانات: OpenAIRE