Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-011-9364-y
Reference100 articles.
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2. Andersson HC, Marble M, Shapira E (1999) Long-term outcome in treated combined methylmalonic acidemia and homocystinemia. Genet Med 1:146–150
3. Andersson HC, Shapira E (1998) Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC). J Pediatr 132:121–124
4. Augoustides-Savvopoulou P, Mylonas I, Sewell AC, Rosenblatt DS (1999) Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family. J Inherit Metab Dis 22:756–758
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