Sharma A, Kumar R, Varadwaj P
Mol Diagn Ther. 2023; 27(3):321-347.
PMID: 36729362
PMC: 9893210.
DOI: 10.1007/s40291-023-00640-7.
Walker D, Thaden J, Wierzchowska-McNew A, Engelen M, Deutz N
J Chromatogr B Analyt Technol Biomed Life Sci. 2016; 1040:233-238.
PMID: 27856194
PMC: 5191936.
DOI: 10.1016/j.jchromb.2016.11.010.
Villani G, Gallo G, Scolamiero E, Salvatore F, Ruoppolo M
Clin Exp Med. 2016; 17(3):305-323.
PMID: 27613073
DOI: 10.1007/s10238-016-0435-0.
Wilson A, Baietto M
Sensors (Basel). 2012; 11(1):1105-76.
PMID: 22346620
PMC: 3274093.
DOI: 10.3390/s110101105.
Luis P, Ruiter J, Ijlst L, Diogo L, Garcia P, Tavares de Almeida I
J Inherit Metab Dis. 2011; 35(3):443-9.
PMID: 22189597
DOI: 10.1007/s10545-011-9423-4.
Abnormal tricarboxylic acid cycle metabolites in isovaleric acidaemia.
Loots D
J Inherit Metab Dis. 2009; 32(3):403-11.
PMID: 19343532
DOI: 10.1007/s10545-009-1071-6.
Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.
Vockley J, Ensenauer R
Am J Med Genet C Semin Med Genet. 2006; 142C(2):95-103.
PMID: 16602101
PMC: 2652706.
DOI: 10.1002/ajmg.c.30089.
4-hydroxyisovaleric acid: a new metabolite in isovaleric acidemia.
Lehnert W, Niederhoff H
Eur J Pediatr. 1981; 136(3):281-3.
PMID: 7262100
DOI: 10.1007/BF00442995.
An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.
Goodman S
Am J Hum Genet. 1980; 32(6):781-92.
PMID: 7004178
PMC: 1686166.
Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia.
Rhead W, Tanaka K
Proc Natl Acad Sci U S A. 1980; 77(1):580-3.
PMID: 6928646
PMC: 348317.
DOI: 10.1073/pnas.77.1.580.
Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.
Jakobs C, Sweetman L, Nyhan W, Packman S
J Inherit Metab Dis. 1984; 7(1):15-20.
PMID: 6429435
DOI: 10.1007/BF01805614.
Hypoglycin A: a specific inhibitor of isovaleryl CoA dehydrogenase.
Tanaka K, Miller E, Isselbacher K
Proc Natl Acad Sci U S A. 1971; 68(1):20-4.
PMID: 5276292
PMC: 391092.
DOI: 10.1073/pnas.68.1.20.
The response to L-carnitine and glycine therapy in isovaleric acidaemia.
De Sousa C, Chalmers R, Stacey T, Tracey B, Weaver C, Bradley D
Eur J Pediatr. 1986; 144(5):451-6.
PMID: 3956533
DOI: 10.1007/BF00441737.
Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.
Tanaka K, Mandell R, Shih V
J Clin Invest. 1976; 58(1):164-72.
PMID: 932204
PMC: 333167.
DOI: 10.1172/JCI108446.
Two sisters with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development.
Duran M, VAN SPRANG F, Drewes J, Bruinvis L, Ketting D, WADMAN S
Eur J Pediatr. 1979; 131(3):205-11.
PMID: 477679
DOI: 10.1007/BF00538944.
