Gropman AL - Search Results

1

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.

Posset R, Kölker S, Gleich F, Okun JG, Gropman AL, Nagamani SCS, Scharre S, Probst J, Walter ME, Hoffmann GF, Garbade SF, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group. Posset R, et al. Among authors: gropman al. Mol Genet Metab. 2020 Dec;131(4):390-397. doi: 10.1016/j.ymgme.2020.10.013. Epub 2020 Nov 7. Mol Genet Metab. 2020. PMID: 33288448 Free PMC article.

2

Cognitive outcome in urea cycle disorders.

Gropman AL, Batshaw ML. Gropman AL, et al. Mol Genet Metab. 2004 Apr;81 Suppl 1:S58-62. doi: 10.1016/j.ymgme.2003.11.016. Mol Genet Metab. 2004. PMID: 15050975 Review.

3

Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy.

Gropman AL. Gropman AL. Mol Genet Metab. 2005 Sep-Oct;86(1-2):2-9. doi: 10.1016/j.ymgme.2005.07.009. Mol Genet Metab. 2005. PMID: 16276565 No abstract available.

4

1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.

Gropman AL, Fricke ST, Seltzer RR, Hailu A, Adeyemo A, Sawyer A, van Meter J, Gaillard WD, McCarter R, Tuchman M, Batshaw M; Urea Cycle Disorders Consortium. Gropman AL, et al. Mol Genet Metab. 2008 Sep-Oct;95(1-2):21-30. doi: 10.1016/j.ymgme.2008.06.003. Epub 2008 Jul 26. Mol Genet Metab. 2008. PMID: 18662894 Free PMC article.

5

New frontiers in neuroimaging applications to inborn errors of metabolism.

Prust MJ, Gropman AL, Hauser N. Prust MJ, et al. Among authors: gropman al. Mol Genet Metab. 2011 Nov;104(3):195-205. doi: 10.1016/j.ymgme.2011.06.020. Epub 2011 Jun 30. Mol Genet Metab. 2011. PMID: 21778100 Free PMC article. Review.

6

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: gropman al. 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.

7

Developmental and psychiatric presentations of inherited metabolic disorders.

Turnacioglu S, Gropman AL. Turnacioglu S, et al. Among authors: gropman al. Pediatr Neurol. 2013 Mar;48(3):179-87. doi: 10.1016/j.pediatrneurol.2012.08.012. Pediatr Neurol. 2013. PMID: 23419468 Review.

8

Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013.

Pacheco-Colón I, Fricke S, VanMeter J, Gropman AL. Pacheco-Colón I, et al. Among authors: gropman al. Mol Genet Metab. 2014 Sep-Oct;113(1-2):118-26. doi: 10.1016/j.ymgme.2014.05.005. Epub 2014 May 20. Mol Genet Metab. 2014. PMID: 25066103 Free PMC article. Review.

9

The urea cycle disorders.

Helman G, Pacheco-Colón I, Gropman AL. Helman G, et al. Among authors: gropman al. Semin Neurol. 2014 Jul;34(3):341-9. doi: 10.1055/s-0034-1386771. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192511

10

Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.

Waisbren SE, Gropman AL; Members of the Urea Cycle Disorders Consortium (UCDC); Batshaw ML. Waisbren SE, et al. Among authors: gropman al. J Inherit Metab Dis. 2016 Jul;39(4):573-84. doi: 10.1007/s10545-016-9942-0. Epub 2016 May 23. J Inherit Metab Dis. 2016. PMID: 27215558 Free PMC article.

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