Barshop BA - Search Results

1

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.

Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. Gallant NM, et al. Among authors: barshop ba. Mol Genet Metab. 2012 May;106(1):55-61. doi: 10.1016/j.ymgme.2012.02.007. Epub 2012 Feb 9. Mol Genet Metab. 2012. PMID: 22424739

2

Pyruvate carboxylase deficiency--insights from liver transplantation.

Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH. Nyhan WL, et al. Among authors: barshop ba. Mol Genet Metab. 2002 Sep-Oct;77(1-2):143-9. doi: 10.1016/s1096-7192(02)00123-3. Mol Genet Metab. 2002. PMID: 12359142

3

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. 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

4

Attitudes regarding vaccination among practitioners of clinical biochemical genetics.

Barshop BA, Summar ML. Barshop BA, et al. Mol Genet Metab. 2008 Sep-Oct;95(1-2):1-2. doi: 10.1016/j.ymgme.2008.08.001. Mol Genet Metab. 2008. PMID: 18816884 No abstract available.

5

Management of a patient with holocarboxylase synthetase deficiency.

Van Hove JL, Josefsberg S, Freehauf C, Thomas JA, Thuy le P, Barshop BA, Woontner M, Mock DM, Chiang PW, Spector E, Meneses-Morales I, Cervantes-Roldán R, León-Del-Río A. Van Hove JL, et al. Among authors: barshop ba. Mol Genet Metab. 2008 Dec;95(4):201-5. doi: 10.1016/j.ymgme.2008.09.006. Epub 2008 Oct 29. Mol Genet Metab. 2008. PMID: 18974016 Free PMC article.

6

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.

Dhar SU, Scaglia F, Li FY, Smith L, Barshop BA, Eng CM, Haas RH, Hunter JV, Lotze T, Maranda B, Willis M, Abdenur JE, Chen E, O'Brien W, Wong LJ. Dhar SU, et al. Among authors: barshop ba. Mol Genet Metab. 2009 Jan;96(1):38-43. doi: 10.1016/j.ymgme.2008.10.008. Epub 2008 Nov 21. Mol Genet Metab. 2009. PMID: 19027335

7

Laboratory referral practices in biochemical genetics in the United States.

Barshop BA, Greene CL. Barshop BA, et al. Mol Genet Metab. 2009 Sep-Oct;98(1-2):149-51. doi: 10.1016/j.ymgme.2009.05.013. Mol Genet Metab. 2009. PMID: 19663047 No abstract available.

8

Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.

Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL. Nguyen KV, et al. Among authors: barshop ba. Mol Genet Metab. 2011 Feb;102(2):218-21. doi: 10.1016/j.ymgme.2010.10.008. Epub 2010 Oct 20. Mol Genet Metab. 2011. PMID: 21071250

9

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

Lam C, Desviat LR, Perez-Cerdá C, Ugarte M, Barshop BA, Cederbaum S. Lam C, et al. Among authors: barshop ba. Mol Genet Metab. 2011 Aug;103(4):338-40. doi: 10.1016/j.ymgme.2011.04.007. Epub 2011 Apr 22. Mol Genet Metab. 2011. PMID: 21549625

10

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, Barshop BA, Schulze A, Koeberl DD, Young SP. El-Gharbawy AH, et al. Among authors: barshop ba. Mol Genet Metab. 2013 Jun;109(2):215-7. doi: 10.1016/j.ymgme.2013.03.003. Epub 2013 Mar 16. Mol Genet Metab. 2013. PMID: 23583224

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