‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-006-0278-z
Reference40 articles.
1. Applegarth DA, Toone JR, Lowry RB (2000) Incidence of inborn errors of metabolism in British Columbia, 1969–1996. Pediatrics 105: e10.
2. Baumgarter ER, Viardot C (1995) Long-term follow-up of 77 patients with isolated methylmalonic acidaemia. J Inherit Metab Dis 18: 138–142.
3. Burlina AB, Dionisi-Vici C, Piovan S, et al (1995) Acute pancreatitis in propionic acidaemia. J Inherit Metab Dis 18: 169–172.
4. Chakrapani A, Sivakumar P, McKiernan PJ, Leonard JV (2002) Metabolic stroke in methylmalonic acidemia five years after liver transplantation. J Pediatr 140: 261–263.
5. Deodato F, Rizzo C, Boenzi S, Baiocco F, Sabetta G, Dionisi-Vici C (2002) Successful pregnancy in a woman with muttmethylmalonic acidaemia. J Inherit Metab Dis 25: 133–134.
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