Rizzo WB - Search Results

1

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

Rush ET, Baker CV, Rizzo WB. Rush ET, et al. Among authors: rizzo wb. 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

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: rizzo wb. 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. Among authors: rizzo wb. 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: rizzo wb. 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

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. Among authors: rizzo wb. 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.

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. Among authors: rizzo wb. 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

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.

Baker CV, Cady Keller A, Lutz R, Eveans K, Baumert K, DiPerna JC, Rizzo WB. Baker CV, et al. Among authors: rizzo wb. Int J Neonatal Screen. 2022 Apr 26;8(2):29. doi: 10.3390/ijns8020029. Int J Neonatal Screen. 2022. PMID: 35645283 Free PMC article.

8

Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

Rizzo WB. Rizzo WB. Mol Genet Metab. 2007 Jan;90(1):1-9. doi: 10.1016/j.ymgme.2006.08.006. Epub 2006 Sep 22. Mol Genet Metab. 2007. PMID: 16996289 Free PMC article. Review.

9

Recognition and diagnosis of neuro-ichthyotic syndromes.

Rizzo WB, Jenkens SM, Boucher P. Rizzo WB, et al. Semin Neurol. 2012 Feb;32(1):75-84. doi: 10.1055/s-0032-1306390. Epub 2012 Mar 15. Semin Neurol. 2012. PMID: 22422210 Free PMC article. Review.

10

Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.

Davis K, Holden KR, S'Aulis D, Amador C, Matheus MG, Rizzo WB. Davis K, et al. Among authors: rizzo wb. J Child Neurol. 2013 Oct;28(10):1259-65. doi: 10.1177/0883073812460581. Epub 2012 Oct 3. J Child Neurol. 2013. PMID: 23034980 Free PMC article.

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