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| Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk |
| Kyung Lae Cho, Yeo Jin Kim, Song Hyun Yang, Gu-Hwan Kim, Jun Hwa Lee |
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Clin Exp Pediatr. 2016;59(Suppl 1):S41-S44. Published online November 30, 2016 DOI: https://doi.org/10.3345/kjp.2016.59.11.S41 |
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Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk Korean Journal of Pediatrics. 2016;59(Suppl 1):S41  3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase Clinica Chimica Acta. 1995;240(1):35-51 Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency The Journal of Pediatrics. 1989;115(1):110-113 Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency The Journal of Pediatrics. 1992;121(3):407-410 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children The Journal of Pediatrics. 1998;132(3):519-523 Disorder: 3-Methylcrotonyl-CoA-carboxylase deficiency A Quick Guide to Metabolic Disease Testing Interpretation. 2020;39-43 The Enzymatic Isomerization of β-Methylvinylacetyl Coenzyme A and the Specificity of a Bacterial β-Methylcrotonyl Coenzyme A Carboxylase Journal of Biological Chemistry. 1960;235(11):3087-3092 Metabolic and Environmental Regulation of 3-Methylcrotonyl-Coenzyme A Carboxylase Expression in Arabidopsis Plant Physiology. 2002;129(2):625-637 Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency Journal of Genetic Medicine. 2017;14(1):23-26 An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency detected by newborn screening for maple syrup urine disease European Journal of Pediatrics. 1997;156(9):713-715 |
