BETA -HYDROXYISOBUTYRYL COENZYME A DEACYLASE DEFICIENCY: A DEFECT IN VALINE METABOLISM ASSOCIATED WITH PHYSICAL MALFORMATIONSBROWN GK; HUNT SM; SCHOLEM R et al.1982; PEDIATRICS (EVANSTON); ISSN 0031-4005; USA; DA. 1982; VOL. 70; NO 4; PP. 532-538; BIBL. 19 REF.Article

Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defectHAAN, E. A; SCHOLEM, R. D; CROLL, H. B et al.European journal of pediatrics. 1986, Vol 144, Num 6, pp 567-570, issn 0340-6199Article

Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenaseWICKING, C. A; SCHOLEM, R. D; HUNT, S. M et al.Biochemical journal (London. 1906). 1986, Vol 239, Num 1, pp 89-96, issn 0006-2936Article

Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiencyBROWN, G. K; SCHOLEM, R. D; HUNT, S. M et al.Journal of inherited metabolic disease. 1987, Vol 10, Num 4, pp 359-366, issn 0141-8955Article

Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduriaHAAN, E. A; SCHOLEM, R. D; PITT, J. J et al.European journal of pediatrics. 1987, Vol 146, Num 5, pp 484-488, issn 0340-6199Article

Deoxyribose-5-phosphate aldolase deficiency―a harmless inborn error of metabolismCHAPPEL, A; SCHOLEM, R. D; BROWN, G. K et al.Journal of inherited metabolic disease. 1983, Vol 6, Num 3, pp 105-107, issn 0141-8955Article

Cerebral lactic acidosis: defects in pyruvate metabolism with profound braindamage and minimal systemic acidosisBROWN, G. K; HAAN, E. A; KIRBY, D. M et al.European journal of pediatrics. 1988, Vol 147, Num 1, pp 10-14, issn 0340-6199Article