Laryngeal stridor as a leading symptom in a biotinidase-deficient patient.
Dionisi-Vici
C
C
Servizio di Patologia Metabolica, Ospedale Bambino Gesù Istituto per la Ricerca Scientifica, Roma, Italy.
Bachmann
C
C
Graziani
M C
MC
Sabetta
G
G
D000581:Amidohydrolases / Q000172:deficiency*; D043523:Biotinidase; D005260:Female; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D007223:Infant; D007773:Lactates / Q000097:blood / Q000652:urine; D007830:Larynx / Q000002:abnormalities*; D011422:Propionates / Q000097:blood; D014631:Valerates / Q000652:urine
D007773:Lactates; D011422:Propionates; D014631:Valerates; C002163:beta-methylcrotonylglycine; C004961:beta-hydroxyisovaleric acid; D000581:Amidohydrolases; D043523:Biotinidase; D005998:Glycine