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Clinical Chemistry|January 1, 1995
Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometryD H Chace, S L Hillman, D S Millington, et al.Journal of Neurology, Neurosurgery, and Psychiatry|March 1, 1992
Neuropsychiatric manifestations of defect in mitochondrial beta oxidation response to riboflavinW J Triggs, C R Roe, W J Rhead, et al.Archives of Disease in Childhood|November 1, 1983
Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groupsC R Roe, C L Hoppel, T E Stacey, et al.Pediatrics|July 1, 1985
Creatine kinase brain isoenzyme: relationship of cerebrospinal fluid concentration to the neurologic condition of newborns and cellular localization in the human brainG Worley, B Lipman, I H Gewolb, et al.Molecular Genetics and Metabolism|March 23, 2005
Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapyFanny Mochel, Pascale DeLonlay, Guy Touati, et al.The Journal of Pediatrics|January 1, 1988
Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuriaD W Bartholomew, M L Batshaw, R H Allen, et al.American Journal of Physiology. Endocrinology and Metabolism|November 12, 2009
Parenteral and enteral metabolism of anaplerotic triheptanoin in normal rats. II. Effects on lipolysis, glucose production, and liver acyl-CoA profileLei Gu, Guo-Fang Zhang, Rajan S Kombu, et al.Biochemical and Molecular Medicine|June 1, 1996
Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathyM C Brown-Harrison, M A Nada, H Sprecher, et al.Analytical Biochemistry|May 23, 2002
Assay of the concentration and (13)C isotopic enrichment of propionyl-CoA, methylmalonyl-CoA, and succinyl-CoA by gas chromatography-mass spectrometryTakhar Kasumov, Wenjun Z Martini, Aneta E Reszko, et al.Plos One|October 10, 2014
Anaplerotic triheptanoin diet enhances mitochondrial substrate use to remodel the metabolome and improve lifespan, motor function, and sociability in MeCP2-null miceMin Jung Park, Susan Aja, Qun Li, et al.Pageof 18