Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters-Reference-Cited by-同舟云学术

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters

Published:2009-07-31 Issue:5 Volume:32 Page:
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Hörster F.,Garbade S. F.,Zwickler T.,Aydin H. I.,Bodamer O. A.,Burlina A. B.,Das A. M.,De Klerk J. B. C.,Dionisi-Vici C.,Geb S.,Gökcay G.,Guffon N.,Maier E. M.,Morava E.,Walter J. H.,Schwahn B.,Wijburg F. A.,Lindner M.,Grünewald S.,Baumgartner M. R.,Kölker S.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-009-1189-6.pdf

Reference26 articles.

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3. Baumgartner ER, Giardini O, Cantani A (1982) Methylmalonic acidemia due to apoenzyme defect: responsive to vitamin B12 in intact fibroblasts but not in vivo. J Inherit Metab Dis 5: 137–141.

4. Baumgartner ER, Viardot C (1995) Long-term follow-up of 77 patients with isolated methylmalonic aciduria. J Inherit Metab Dis 18: 138–142.

5. Coelho D, Suormala T, Stucki M, et al (2008) Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med 358: 1454–1564.

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