[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)].
Sakamoto
O
O
Department of Medical Genetics, Tohoku University Graduate School.
Narisawa
K
K
D017668:Age of Onset; D015415:Biomarkers / Q000032:analysis; D001710:Biotin / Q000008:administration & dosage / Q000627:therapeutic use; D019731:Carbon-Nitrogen Ligases / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009100:Multiple Carboxylase Deficiency / Q000175:diagnosis / Q000209:etiology; D009154:Mutation; D011379:Prognosis
D015415:Biomarkers; D001710:Biotin; D019731:Carbon-Nitrogen Ligases; C023312:holocarboxylase synthetases