Enamel defects and salivary methylmalonate in methylmalonic acidemia
Author:
Publisher
Wiley
Subject
General Dentistry,Otorhinolaryngology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1601-0825.2008.01509.x/fullpdf
Reference53 articles.
1. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene;Acquaviva;Hum Mutat,2005
2. Adams D , Venditti CP (2008). Disorders of Intracellular Cobalamin Metabolism GeneReviews at GeneTests: Medical Genetics Information Resource [database online at http://www.genetests.org].
3. Elevation of 2-methylcitric acid I and II levels in serum, urine, and cerbrospinal fluid of patients with cobalamin deficiency;Allen;Metabolism,1993
4. Long-term outcome in treated combined methylmalonic acidemia and homocystinemia;Andersson;Genet Med,1999
5. 3-hydroxypropionate: significance of -oxidation of propionate in patients with propionic acidemia and methylmalonic acidemia;Ando;Proc Natl Acad Sci USA,1972
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