The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor.
Tokatli
A
A
Department of Pediatric Metabolism, Hacettepe Children's Hospital, Ankara, Turkey.
Coşkun
T
T
Ozalp
I
I
Günay
M
M
D000208:Acute Disease; D000581:Amidohydrolases / Q000172:deficiency*; D001710:Biotin / Q000627:therapeutic use; D043523:Biotinidase; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007827:Laryngitis / Q000188:drug therapy / Q000209:etiology*; D012135:Respiratory Sounds / Q000209:etiology*
D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase