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Page 1
Acute management of propionic acidemia.
Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Pena L, Smith B, Sutton VR, Urv T, Venditti C, Chakrapani A. Chapman KA, et al. Among authors: summar ml. Mol Genet Metab. 2012 Jan;105(1):16-25. doi: 10.1016/j.ymgme.2011.09.026. Epub 2011 Sep 24. Mol Genet Metab. 2012. PMID: 22000903 Free PMC article. Review.
Neurological implications of urea cycle disorders.
Gropman AL, Summar M, Leonard JV. Gropman AL, et al. J Inherit Metab Dis. 2007 Nov;30(6):865-79. doi: 10.1007/s10545-007-0709-5. Epub 2007 Nov 23. J Inherit Metab Dis. 2007. PMID: 18038189 Free PMC article. Review.
Propionic acidemia consensus conference summary.
Chapman KA, Summar ML. Chapman KA, et al. Among authors: summar ml. Mol Genet Metab. 2012 Jan;105(1):3-4. doi: 10.1016/j.ymgme.2011.08.007. Epub 2011 Aug 16. Mol Genet Metab. 2012. PMID: 21908219
Chronic management and health supervision of individuals with propionic acidemia.
Sutton VR, Chapman KA, Gropman AL, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A. Sutton VR, et al. Among authors: summar ml. Mol Genet Metab. 2012 Jan;105(1):26-33. doi: 10.1016/j.ymgme.2011.08.034. Epub 2011 Sep 10. Mol Genet Metab. 2012. PMID: 21963082 Review.
Natural history of propionic acidemia.
Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Island E, MacLeod E, Matern D, Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C, Enns GM, Summar ML. Pena L, et al. Among authors: summar ml. Mol Genet Metab. 2012 Jan;105(1):5-9. doi: 10.1016/j.ymgme.2011.09.022. Epub 2011 Sep 22. Mol Genet Metab. 2012. PMID: 21986446 Review.
Neurologic considerations in propionic acidemia.
Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, MacLeod E, Stagni K, Ueda K, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A, Gropman AL. Schreiber J, et al. Among authors: summar ml. Mol Genet Metab. 2012 Jan;105(1):10-5. doi: 10.1016/j.ymgme.2011.10.003. Epub 2011 Oct 19. Mol Genet Metab. 2012. PMID: 22078457 Review.
Propionic acidemia: to liver transplant or not to liver transplant?
Chapman KA, Summar ML, Enns GM. Chapman KA, et al. Among authors: summar ml. Pediatr Transplant. 2012 May;16(3):209-10. doi: 10.1111/j.1399-3046.2012.01649.x. Epub 2012 Feb 15. Pediatr Transplant. 2012. PMID: 22332632 No abstract available.
The incidence of urea cycle disorders.
Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B; European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml; Members of the Urea Cycle Disorders Consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/. Summar ML, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):179-80. doi: 10.1016/j.ymgme.2013.07.008. Epub 2013 Jul 18. Mol Genet Metab. 2013. PMID: 23972786 Free PMC article.
A longitudinal study of urea cycle disorders.
Batshaw ML, Tuchman M, Summar M, Seminara J; Members of the Urea Cycle Disorders Consortium. Batshaw ML, et al. Among authors: summar m. Mol Genet Metab. 2014 Sep-Oct;113(1-2):127-30. doi: 10.1016/j.ymgme.2014.08.001. Epub 2014 Aug 10. Mol Genet Metab. 2014. PMID: 25135652 Free PMC article. Review.
123 results