Rush ET - Search Results

1

Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders.

Rush ET, Goodwin JL, Braverman NE, Rizzo WB. Rush ET, et al. Mol Genet Metab Rep. 2016 May 23;7:94-5. doi: 10.1016/j.ymgmr.2016.05.004. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27331009 Free PMC article. No abstract available.

2

Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant.

Mohebbi MR, Rush ET, Rizzo WB, Banagale RC. Mohebbi MR, et al. Among authors: rush et. J Child Neurol. 2012 Dec;27(12):1589-92. doi: 10.1177/0883073811435918. Epub 2012 Feb 28. J Child Neurol. 2012. PMID: 22378672

3

Low bone mineral density is a common feature of Zellweger spectrum disorders.

Rush ET, Goodwin JL, Braverman NE, Rizzo WB. Rush ET, et al. Mol Genet Metab. 2016 Jan;117(1):33-7. doi: 10.1016/j.ymgme.2015.11.009. Epub 2015 Nov 24. Mol Genet Metab. 2016. PMID: 26643206

4

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Braverman NE, et al. Among authors: rush et. Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. Mol Genet Metab. 2016. PMID: 26750748 Free PMC article. Review.

5

Atypical presentation of mucopolysaccharidosis type IVA.

Rush ET. Rush ET. Mol Genet Metab Rep. 2016 Jun 7;8:8-12. doi: 10.1016/j.ymgmr.2016.05.006. eCollection 2016 Sep. Mol Genet Metab Rep. 2016. PMID: 27331011 Free PMC article.

6

Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy.

Rush ET, Hartmann JE, Skrabal JC, Rizzo WB. Rush ET, et al. SAGE Open Med Case Rep. 2014 Jul 31;2:2050313X14546348. doi: 10.1177/2050313X14546348. eCollection 2014. SAGE Open Med Case Rep. 2014. PMID: 27489649 Free PMC article.

7

Echocardiographic phenotype in osteogenesis imperfecta varies with disease severity.

Rush ET, Li L, Goodwin JL, Kreikemeier RM, Craft M, Danford DA, Kutty S. Rush ET, et al. Heart. 2017 Mar;103(6):443-448. doi: 10.1136/heartjnl-2016-310099. Epub 2016 Sep 19. Heart. 2017. PMID: 27647171

8

Initial Experience With Percutaneous IM Rodding of the Humeri in Children With Osteogenesis Imperfecta.

Grossman LS, Price AL, Rush ET, Goodwin JL, Wallace MJ, Esposito PW. Grossman LS, et al. Among authors: rush et. J Pediatr Orthop. 2018 Oct;38(9):484-489. doi: 10.1097/BPO.0000000000000856. J Pediatr Orthop. 2018. PMID: 27662385

9

Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.

Rush ET, Baker CV, Rizzo WB. Rush ET, et al. Am J Med Genet A. 2017 Sep;173(9):2428-2434. doi: 10.1002/ajmg.a.38287. Am J Med Genet A. 2017. PMID: 28816422

10

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

Kishnani PS, Rush ET, Arundel P, Bishop N, Dahir K, Fraser W, Harmatz P, Linglart A, Munns CF, Nunes ME, Saal HM, Seefried L, Ozono K. Kishnani PS, et al. Among authors: rush et. Mol Genet Metab. 2017 Sep;122(1-2):4-17. doi: 10.1016/j.ymgme.2017.07.010. Epub 2017 Jul 25. Mol Genet Metab. 2017. PMID: 28888853 Free article. Review.

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