Braverman N - Search Results

1

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N. Arnold GL, et al. Among authors: braverman n. Mol Genet Metab. 2008 Apr;93(4):363-70. doi: 10.1016/j.ymgme.2007.11.002. Epub 2007 Dec 21. Mol Genet Metab. 2008. PMID: 18155630

2

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.

Harvey Mudd S, Braverman N, Pomper M, Tezcan K, Kronick J, Jayakar P, Garganta C, Ampola MG, Levy HL, McCandless SE, Wiltse H, Stabler SP, Allen RH, Wagner C, Borschel MW. Harvey Mudd S, et al. Among authors: braverman n. Mol Genet Metab. 2003 May;79(1):6-16. doi: 10.1016/s1096-7192(03)00066-0. Mol Genet Metab. 2003. PMID: 12765841

3

Diagnostic guidelines for newborns who screen positive in newborn screening.

Kronn D, Mofidi S, Braverman N, Harris K; Diagnostics Guidelines Work Group. Kronn D, et al. Among authors: braverman n. Genet Med. 2010 Dec;12(12 Suppl):S251-5. doi: 10.1097/GIM.0b013e3181fe5d8b. Genet Med. 2010. PMID: 21150371 Free article.

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. 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

A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.

Braverman N, Zhang R, Chen L, Nimmo G, Scheper S, Tran T, Chaudhury R, Moser A, Steinberg S. Braverman N, et al. Mol Genet Metab. 2010 Apr;99(4):408-16. doi: 10.1016/j.ymgme.2009.12.005. Epub 2009 Dec 11. Mol Genet Metab. 2010. PMID: 20060764 Free PMC article.

6

The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.

Hiebler S, Masuda T, Hacia JG, Moser AB, Faust PL, Liu A, Chowdhury N, Huang N, Lauer A, Bennett J, Watkins PA, Zack DJ, Braverman NE, Raymond GV, Steinberg SJ. Hiebler S, et al. Among authors: braverman ne. Mol Genet Metab. 2014 Apr;111(4):522-532. doi: 10.1016/j.ymgme.2014.01.008. Epub 2014 Jan 23. Mol Genet Metab. 2014. PMID: 24503136 Free PMC article.

7

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

8

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.

9

Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.

Yaghmai R, Kashani AH, Geraghty MT, Okoh J, Pomper M, Tangerman A, Wagner C, Stabler SP, Allen RH, Mudd SH, Braverman N. Yaghmai R, et al. Among authors: braverman n. Am J Med Genet. 2002 Feb 15;108(1):57-63. doi: 10.1002/ajmg.10186. Am J Med Genet. 2002. PMID: 11857551

10

Characteristic MR imaging changes in severe hypermethioninemic states.

Braverman NE, Mudd SH, Barker PB, Pomper MG. Braverman NE, et al. AJNR Am J Neuroradiol. 2005 Nov-Dec;26(10):2705-6. AJNR Am J Neuroradiol. 2005. PMID: 16286426 Free PMC article. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

135 results

Search Page

Filters