A new case of holocarboxylase synthetase deficiency.
Briones
P
P
Instituto de Bioquímica Clínica, Diputación de Barcelona, Spain.
Ribes
A
A
Vilaseca
M A
MA
Rodríguez-Valcárcel
G
G
Thuy
L P
LP
Sweetman
L
L
D001710:Biotin / Q000627:therapeutic use; D019731:Carbon-Nitrogen Ligases; D002478:Cells, Cultured; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008025:Ligases / Q000172:deficiency*; D013379:Substrate Specificity
D001710:Biotin; D008025:Ligases; D019731:Carbon-Nitrogen Ligases; C023312:holocarboxylase synthetases