Holocarboxylase synthetase deficiency: A biotin-responsive organic acidemia

This publication has 16 references indexed in Scilit:

• Biotin-response Organicaciduria
  Journal of Clinical Investigation, 1979
• MULTIPLE BIOTIN-DEPENDENT CARBOXYLASE DEFICIENCIES ASSOCIATED WITH DEFECTS IN T-CELL AND B-CELL IMMUNITY
  The Lancet, 1979
• BIOTIN-RESPONSIVE ALOPECIA AND DEVELOPMENTAL REGRESSION
  The Lancet, 1979
• Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1976
• Organic aciduria. Treatable cause of floppy infant syndrome.
  Archives of Disease in Childhood, 1976
• Beta-methylcrotonic aciduria associated with lactic acidosis
  The Journal of Pediatrics, 1976
• The inactivation of pyruvate dehydrogenase by fatty acid in isolated rat liver mitochondria
  Biochemical and Biophysical Research Communications, 1975
• Child with a defect in leucine metabolism associated with beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria.
  Archives of Disease in Childhood, 1973
• BIOTIN-RESPONSIVE β-METHYLCROTONYLGLYCINURIA
  The Lancet, 1971
• $beta;-HYDROXYISOVALERIC ACIDURIA AND $beta;-METHYLCROTONYLGLYCINURIA: A NEW INBORN ERROR OF METABOLISM
  The Lancet, 1970