Gene preference in maple syrup urine disease

American Journal of Human Genetics

Volumn 68, Issue 1, 2001, Pages 232-237

  Nellis, Mary M ^a   Danner, Dean J ^b  

^a EMORY UNIVERSITY   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOACID DEHYDROGENASE;

ARTICLE; DIET; GENE LOCUS; GENETIC COMPLEMENTATION; HUMAN; INHERITANCE; LYMPHOBLAST; MAJOR CLINICAL STUDY; MAPLE SYRUP URINE DISEASE; MENTAL DEFICIENCY; MITOCHONDRION; NEWBORN DEATH; NUCLEOTIDE SEQUENCE; PHYSICAL DISABILITY; PRIORITY JOURNAL; SCREENING;

EID: 0035158447     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/316950     Document Type: Article

References (22)

1. Crystal structure of human branched-chain α-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease
2. Disorders of branched chain amino acid and keto acid metabolism
3. Absence of branched chain acyl-transferase as a cause of maple syrup urine disease
4. Thiamine increases the specific activity of human liver branched chain α-ketoacid dehydrogenase
5. Human mutations affecting branched chain α-ketoacid dehydrogenase
6. Disorders of branched chain amino acid and keto acid metabolism
7. Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase
8. Phenotypes of patients with "simple" Mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
9. Thiamin-responsive maple syrup urine disease in a patient antigenically missing dihydrolipoamide acyltransferase
10. Nutritional management of inherited metabolic disorders
11. Thiamine responsive maple syrup urine disease
12. Activity state of the branched chain α-ketoacid dehydrogenase complex in heart, liver, and kidney of normal, fasted, diabetic, and protein-starved rats
13. Branched chain acyltransferase absence due to an ALU-based genomic deletion allele and an exon skipping allele in a compound heterozygote proband expressing maple syrup urine disease
14. Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer
15. Reversion of maple syrup urine disease phenotype of impaired branched chain α-ketoacid dehydrogenase complex activity in fibroblasts from an affected child
16. Two new mutations in the human E1β subunit of branched chain α-ketoacid dehydrogenase associated with maple syrup urine disease
17. Complementation of defective leucine decarboxylation in fibroblasts from a maple syrup urine disease patient by retrovirus-mediated gene transfer
18. Maple syrup urine disease 1954 to 1993
19. Structure-function relationships in dihydrolipoamide acyltransferases
20. Monogenic traits are not simple
21. The activity state of the branched-chain 2-oxoacid dehydrogenase complex in rat tissues
22. The 2-oxo acid dehydrogenase complexes: Recent advances