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1981 1
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Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Waisbren SE. Waisbren SE. Metab Brain Dis. 2022 Jun;37(5):1317-1335. doi: 10.1007/s11011-022-00954-1. Epub 2022 Mar 29. Metab Brain Dis. 2022. PMID: 35348993 Review.
Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of organic acid metabolism associated with life-threatening acute metabolic decompensations and significant neuropsycholog …
Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of …
L-2 hydroxyglutaric aciduria presenting with anxiety symptoms.
Gökçen C, Isikay S, Yilmaz K. Gökçen C, et al. BMJ Case Rep. 2013 Jun 6;2013:bcr2013009512. doi: 10.1136/bcr-2013-009512. BMJ Case Rep. 2013. PMID: 23749824 Free PMC article.
l-2 Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid metabolism. Cerebellar and pyramidal signs with progressive neurological syndromes, mental deterioration, tremors, seizures, epilepsy and r …
l-2 Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid met …
L-2 hydroxyglutaric aciduria presenting with status epilepticus.
Işikay S. Işikay S. BMJ Case Rep. 2013 Jun 7;2013:bcr2013010164. doi: 10.1136/bcr-2013-010164. BMJ Case Rep. 2013. PMID: 23749865 Free PMC article.
L-2 Hydroxyglutaric aciduria is a rare, progressive, autosomal recessively inherited metabolic disorder of organic acid metabolism. It is characterised by macrocephaly, progressive neurological syndrome with cerebellar features, mental deteriora …
L-2 Hydroxyglutaric aciduria is a rare, progressive, autosomal recessively inherited metabolic disorder of organic a …
Eyelid myoclonia with absence seizures in a child with l-2 hydroxyglutaric aciduria: findings of magnetic resonance imaging.
Mete A, Isikay S, Sirikci A, Ozkur A, Bayram M. Mete A, et al. Pediatr Neurol. 2012 Mar;46(3):195-7. doi: 10.1016/j.pediatrneurol.2012.01.008. Pediatr Neurol. 2012. PMID: 22353300
l-2 hydroxyglutaric aciduria is a rare, autosomal recessively inherited metabolic disorder of organic acid metabolism. A 5-year-old boy presented with eyelid myoclonia with absences that proved difficult to control with first-line anticonvulsant …
l-2 hydroxyglutaric aciduria is a rare, autosomal recessively inherited metabolic disorder of organic acid me …
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
Burri BJ, Sweetman L, Nyhan WL. Burri BJ, et al. J Clin Invest. 1981 Dec;68(6):1491-5. doi: 10.1172/jci110402. J Clin Invest. 1981. PMID: 6798072 Free PMC article.
Biotin-responsive multiple carboxylase deficiency is an inherited disorder of organic acid metabolism in man in which there are deficiencies of propionyl-coenzyme A (CoA), 3-methylcrotonyl-CoA, and pyruvate carboxylases that can be corrected wit …
Biotin-responsive multiple carboxylase deficiency is an inherited disorder of organic acid metabolism in …