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Review 1. An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.

Authors: S I Goodman
Journal: Am J Hum Genet Date: 1980-11 Impact factor: 11.025

2. Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.

Authors: R B Schutgens; B Middleton; J F vd Blij; J W Oorthuys; H A Veder; T Vulsma; W H Tegelaers
Journal: Eur J Pediatr Date: 1982-09 Impact factor: 3.183

3. Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites.

Authors: O A Mamer; S S Tjoa; C R Scriver; G A Klassen
Journal: Biochem J Date: 1976-12-15 Impact factor: 3.857

4. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

Authors: Monica H Wojcik; Klaas J Wierenga; Lance H Rodan; Inderneel Sahai; Sacha Ferdinandusse; Casie A Genetti; Meghan C Towne; Roy W A Peake; Philip M James; Alan H Beggs; Catherine A Brownstein; Gerard T Berry; Pankaj B Agrawal
Journal: JIMD Rep Date: 2017-07-20

Review 5. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.

Authors: O Søvik
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

6. Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels.

Authors: H Przyrembel; H J Bremer; M Duran; L Bruinvis; D Ketting; S K Wadman; R Baumgartner; U Irle; C Bachmann
Journal: Eur J Pediatr Date: 1979-01-18 Impact factor: 3.183

7. Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein.

Authors: K Hiraga; H Kochi; K Hayasaka; G Kikuchi; W L Nyhan
Journal: J Clin Invest Date: 1981-08 Impact factor: 14.808

8. Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency.

Authors: S Aramaki; D Lehotay; L Sweetman; W L Nyhan; S C Winter; B Middleton
Journal: J Inherit Metab Dis Date: 1991 Impact factor: 4.982

9. Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy.

Authors: Sreemathi Logan; Martin-Paul Agbaga; Michael D Chan; Nabila Kabir; Nawajes A Mandal; Richard S Brush; Robert E Anderson
Journal: Proc Natl Acad Sci U S A Date: 2013-03-18 Impact factor: 11.205

10. 3-Ketothiolase deficiency.

Authors: B Middleton; K Bartlett; A Romanos; J Gomez Vazquez; C Conde; R A Cannon; M Lipson; L Sweetman; W L Nyhan
Journal: Eur J Pediatr Date: 1986-04 Impact factor: 3.183