Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-010-9217-0
Reference27 articles.
1. Ben-Omran TI, Wong H, Blaser S et al (2007) Late-onset cobalamin-C disorder: a challenging diagnosis. Am J Med Genet A 143:979–984
2. Carrillo-Carrasco N, Sloan J, Valle D et al (2009) Hydroxocobalamin dose escalation improves metabolic control in cblC. J Inherit Metab Dis 32:728–731
3. Coelho D, Suormala T, Stucki M et al (2008) Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med 358:1454–1464
4. Cusmano-Ozog K, Lorey F, Levine S et al (2007) Cobalamin C disease identified and expanded newborn screening: the California experience. J Investig Med 55:S90
5. den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7–12
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