Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? - Wikidata - awgldk - TriplyDB

Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

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Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.

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Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

http://www.wikidata.org/entity/Q35752479

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2015 nî lūn-bûn

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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name

Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

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Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

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Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

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Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

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Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

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Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

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P1433

Journal of Inherited Metabolic Disorders Reports

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Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

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P2093

Jan Rasmussen

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Jess Have Olesen

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Jákup Andreas Thomsen

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Magni Mohr

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P2860

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy

Intestinal microbiota metabolism of L-carnitine, a nutrient in red meat, promotes atherosclerosis

Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency

Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome

Age and sex dependency of carnitine concentration in human serum and skeletal muscle.

Percutaneous needle biopsy of skeletal muscle in physiological and clinical research.

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

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79-88

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scholarly article

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10.1007/8904_2014_393

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21

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2015-03-03T00:00:00Z

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273153512

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25732994

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P921

3-methylcrotonyl-CoA carboxylase deficiency

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4470948

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