Barshop BA - Search Results

1

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

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

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

5

Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria.

Barshop BA, Nyhan WL, Naviaux RK, McGowan KA, Friedlander M, Haas RH. Barshop BA, et al. Mol Genet Metab. 2000 Jan;69(1):64-8. doi: 10.1006/mgme.1999.2946. Mol Genet Metab. 2000. PMID: 10655159

6

Chronic treatment of mitochondrial disease patients with dichloroacetate.

Barshop BA, Naviaux RK, McGowan KA, Levine F, Nyhan WL, Loupis-Geller A, Haas RH. Barshop BA, et al. Mol Genet Metab. 2004 Sep-Oct;83(1-2):138-49. doi: 10.1016/j.ymgme.2004.06.009. Mol Genet Metab. 2004. PMID: 15464428 Clinical Trial.

7

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.

8

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.

9

Unusual presentation of propionic acidaemia as isolated cardiomyopathy.

Lee TM, Addonizio LJ, Barshop BA, Chung WK. Lee TM, et al. Among authors: barshop ba. J Inherit Metab Dis. 2009 Dec;32 Suppl 1(0 1):S97-101. doi: 10.1007/s10545-009-1084-1. Epub 2009 Feb 24. J Inherit Metab Dis. 2009. PMID: 19238581 Free PMC article.

10

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.

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