Sowa M - Search Results

1

Continuation of pegvaliase treatment during pregnancy: A case report.

Boyer M, Skaar J, Sowa M, Tureson JR, Chapel-Crespo CC, Chang R. Boyer M, et al. Among authors: sowa m. Mol Genet Metab Rep. 2021 Jan 27;26:100713. doi: 10.1016/j.ymgmr.2021.100713. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33552907 Free PMC article.

2

Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

Puckett RL, Lorey F, Rinaldo P, Lipson MH, Matern D, Sowa ME, Levine S, Chang R, Wang RY, Abdenur JE. Puckett RL, et al. Among authors: sowa me. Mol Genet Metab. 2010 Jun;100(2):136-42. doi: 10.1016/j.ymgme.2009.11.010. Epub 2009 Dec 5. Mol Genet Metab. 2010. PMID: 20307994

3

Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass.

Wang RY, Chang RC, Sowa ME, Chang AC, Abdenur JE. Wang RY, et al. World J Pediatr. 2014 Feb;10(1):83-5. doi: 10.1007/s12519-014-0458-0. Epub 2014 Jan 25. World J Pediatr. 2014. PMID: 24464670

4

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.

Boyer M, Sowa M, Di Meo I, Eftekharian S, Steenari MR, Tiranti V, Abdenur JE. Boyer M, et al. Among authors: sowa m. Mol Genet Metab. 2018 May;124(1):57-63. doi: 10.1016/j.ymgme.2018.02.008. Epub 2018 Feb 14. Mol Genet Metab. 2018. PMID: 29526615

5

Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.

Chapel-Crespo C, Gavrilov D, Sowa M, Myers J, Day-Salvatore DL, Lynn H, Regier D, Starin D, Steenari M, Schoonderwoerd K, Abdenur JE. Chapel-Crespo C, et al. Among authors: sowa m. Mol Genet Metab. 2019 Sep-Oct;128(1-2):113-121. doi: 10.1016/j.ymgme.2019.07.015. Epub 2019 Jul 29. Mol Genet Metab. 2019. PMID: 31395333 Free article. No abstract available.

6

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet.

Abdenur JE, Sowa M, Simon M, Steenari M, Skaar J, Eftekharian S, Chang R, Ferdinandusse S, Pitt J. Abdenur JE, et al. Among authors: sowa m. Mol Genet Metab Rep. 2020 Jul 3;24:100617. doi: 10.1016/j.ymgmr.2020.100617. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32642440 Free PMC article. No abstract available.

7

Nutrition Management in Children Less than 5 Years of Age with Glycogen Storage Disease Type I: Survey Results.

Sowa M, Boyer M, Green J, Pendyal S, Saavedra H. Sowa M, et al. Nutrients. 2024 Sep 25;16(19):3244. doi: 10.3390/nu16193244. Nutrients. 2024. PMID: 39408211 Free PMC article.

8

Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.

Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, Pendyal S, Wallace LS, Hansen JG, Stembridge A, Splett P, Singh RH. Van Calcar SC, et al. Among authors: sowa m. Mol Genet Metab. 2020 Sep-Oct;131(1-2):23-37. doi: 10.1016/j.ymgme.2020.10.001. Epub 2020 Oct 6. Mol Genet Metab. 2020. PMID: 33093005 Free article. Review.

9

Compensation for metabolic dietitians practicing in the United States: 2023 genetic metabolic dietitians international professional status survey.

Viau K, Gaughan S, Kopesky J, Ogata B, Saavedra H, Sowa M, MacLeod E. Viau K, et al. Among authors: sowa m. Mol Genet Metab Rep. 2024 Sep 29;41:101147. doi: 10.1016/j.ymgmr.2024.101147. eCollection 2024 Dec. Mol Genet Metab Rep. 2024. PMID: 39399387 Free PMC article.

10

Emotional sequelae of stroke: a longitudinal perspective.

Nelson LD, Cicchetti D, Satz P, Sowa M, Mitrushina M. Nelson LD, et al. Among authors: sowa m. J Clin Exp Neuropsychol. 1994 Oct;16(5):796-806. doi: 10.1080/01688639408402693. J Clin Exp Neuropsychol. 1994. PMID: 7836503

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