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Page 1
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: matern d. 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.
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.
Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N. Tein I, et al. Among authors: matern d. Mol Genet Metab. 2008 Feb;93(2):179-89. doi: 10.1016/j.ymgme.2007.09.021. Epub 2007 Dec 3. Mol Genet Metab. 2008. PMID: 18054510
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: matern d. 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: matern d. 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.
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: matern d. 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.
Rare Saposin A deficiency: Novel variant and psychosine analysis.
Calderwood L, Wenger DA, Matern D, Dahmoush H, Watiker V, Lee C. Calderwood L, et al. Among authors: matern d. Mol Genet Metab. 2020 Feb;129(2):161-164. doi: 10.1016/j.ymgme.2019.08.001. Epub 2019 Aug 5. Mol Genet Metab. 2020. PMID: 31439510
180 results