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- 1. 有機酸血症 organic acidemias
English Journal
- Systems biology analysis reveals role of MDM2 in diabetic nephropathy.
- Saito R1, Rocanin-Arjo A2, You YH3, Darshi M4, Van Espen B4, Miyamoto S3, Pham J3, Pu M5, Romoli S2, Natarajan L5, Ju W6, Kretzler M6, Nelson R7, Ono K8, Thomasova D2, Mulay SR2, Ideker T8, D'Agati V9, Beyret E10, Belmonte JC10, Anders HJ2, Sharma K11.
- JCI insight.JCI Insight.2016 Oct 20;1(17):e87877.
- PMID 27777973
- An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening.
- Kör D, Mungan NÖ, Yılmaz BŞ, Öktem M.
- Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2015 May;28(5-6):669-71. doi: 10.1515/jpem-2014-0302.
- BACKGROUND: 3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an autosomal recessively inherited disease of leucine catabolism. It is the most commonly observed organic acidemia where tandem mass spectrometry can be performed in newborn screening. The clinical phenotypes may differ from neurolo
- PMID 25381946
Related Links
- 16 Nov 2005 ... 3-Methylcrotonylglycine is a normal amino acid metabolite found in urine. Increased levels of this ... 3-Methylcrotonylglycine is often considered to be a diagnostic marker of organic acidemias. (PMID 11170888). Structure ...
- 3-Methylcrotonylglycine is a normal amino acid metabolite found in urine. Increased level s of this metabolite are found in patients suffering from leucine catabolic disorders, such as 3-methylcrotonyl-CoA carboxylase deficiency .
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