Title: Development of an isotope labeling ultra-high performance liquid chromatography mass spectrometric method for quantification of acylglycines in human urine.
Journal: Analytica chimica acta 20121031
Title: A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
Journal: Molecular genetics and metabolism 20120401
Title: 3-Methylcrotonylglycine disrupts mitochondrial energy homeostasis and inhibits synaptic Na(+),K (+)-ATPase activity in brain of young rats.
Journal: Cellular and molecular neurobiology 20120301
Title: Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.
Journal: Journal of human genetics 20120101
Title: [Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria].
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 20110501
Title: The diagnosis and management of patients with idiopathic osteolysis.
Journal: Pediatric rheumatology online journal 20110101
Title: Metabolic profiling of infant urine using comprehensive two-dimensional gas chromatography: Application to the diagnosis of organic acidurias and biomarker discovery.
Journal: Journal of chromatography. A 20100101
Title: Striatum is more vulnerable to oxidative damage induced by the metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency as compared to liver.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 20090601
Title: 3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family.
Journal: Journal of child neurology 20090401
Title: Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay.
Journal: Clinical dysmorphology 20080701
Title: Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine.
Journal: Pediatrics 20071101
Title: Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.
Journal: Journal of inherited metabolic disease 20060201
Title: Biotin deficiency in an infant fed with amino acid formula.
Journal: The Journal of dermatology 20050401
Title: Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.
Journal: Journal of inherited metabolic disease 20050101
Title: Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.
Journal: Journal of inherited metabolic disease 20050101
Title: Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
Journal: American journal of human genetics 20041101
Title: Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
Journal: Journal of inherited metabolic disease 20030101
Title: Branched-chain organic acidurias.
Journal: Seminars in neonatology : SN 20020201
Title: Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.
Journal: Human molecular genetics 20010601
