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Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome".

AuthorsR E Hillman, J P Keating
JournalPediatrics (Pediatrics) Vol. 53 Issue 2 Pg. 221-5 (Feb 1974) ISSN: 0031-4005 [Print] United States
PMID4812006 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Acetoacetates
  • Butanones
  • Carbon Radioisotopes
  • Dinitrophenols
  • Hydrazones
  • Hydroxybutyrates
  • Malonates
  • Propionates
  • Isoleucine
  • Acyltransferases
  • Coenzyme A
  • Glycine
Topics
  • Acetoacetates (urine)
  • Acidosis (enzymology)
  • Acyltransferases (metabolism)
  • Amino Acid Metabolism, Inborn Errors (diagnosis)
  • Butanones (biosynthesis, urine)
  • Carbon Radioisotopes
  • Child
  • Chromatography, Thin Layer
  • Coenzyme A (metabolism)
  • Dinitrophenols (urine)
  • Fibroblasts (metabolism)
  • Glycine (blood, metabolism)
  • Humans
  • Hydrazones (urine)
  • Hydroxybutyrates (urine)
  • Isoleucine (metabolism)
  • Malonates (metabolism)
  • Propionates (metabolism)

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