Biotinidase deficiency in a four-week-old infant with infantile spasms
Küçük Resim Yok
Tarih
2006
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Profound biotinidase deficiency was diagnosed in a 28-day old infant with seizures-like infantile spasms, alopecia and erythematous rash. Clinical signs improved dramatically with biotine treatment. Clinical features of biotinidase deficiency are discussed.
Açıklama
Anahtar Kelimeler
Biotine, Biotinidase deficiency, Infantile spasms
Kaynak
Cocuk Sagligi ve Hastaliklari Dergisi
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
49
Sayı
2
