Couce ML et al. |
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. |
2017 |
J. Hum. Genet. |
pmid:27904153
|
Alexandre-Gouabau MC et al. |
Maternal and cord blood LC-HRMS metabolomics reveal alterations in energy and polyamine metabolism, and oxidative stress in very-low birth weight infants. |
2013 |
J. Proteome Res. |
pmid:23527880
|
Malaguarnera M |
Carnitine derivatives: clinical usefulness. |
2012 |
Curr. Opin. Gastroenterol. |
pmid:22333562
|
van Calcar SC et al. |
2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen. |
2007 |
WMJ |
pmid:17393751
|
Bene J et al. |
Changes of plasma fasting carnitine ester profile in patients with ulcerative colitis. |
2006 |
World J. Gastroenterol. |
pmid:16440427
|
Fries MH et al. |
Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy. |
1996 |
J. Pediatr. |
pmid:8804338
|
Salamino F et al. |
Involvement of erythrocyte calpain in glycine- and carnitine-treated isovaleric acidemia. |
1994 |
Pediatr. Res. |
pmid:7970932
|
Miotto G et al. |
Control of hepatic proteolysis by leucine and isovaleryl-L-carnitine through a common locus. Evidence for a possible mechanism of recognition at the plasma membrane. |
1992 |
J. Biol. Chem. |
pmid:1429558
|
Shigematsu Y et al. |
Prenatal diagnosis of isovaleric acidemia by fast atom bombardment and tandem mass spectrometry. |
1991 |
Clin. Chim. Acta |
pmid:1777996
|
Chalmers RA et al. |
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine. |
1984 |
Pediatr. Res. |
pmid:6441143
|