Bentler K - Search Results

1

The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup.

Berry SA, Jurek AM, Anderson C, Bentler K; Region 4 Genetics Collaborative Priority 2 Workgroup. Berry SA, et al. Among authors: bentler k. Genet Med. 2010 Dec;12(12 Suppl):S215-9. doi: 10.1097/GIM.0b013e3181fe5d23. Genet Med. 2010. PMID: 21150367 Free article.

2

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA; Inborn Errors of Metabolism Collaborative. Bentler K, et al. Mol Genet Metab. 2016 Sep;119(1-2):75-82. doi: 10.1016/j.ymgme.2016.07.002. Epub 2016 Jul 15. Mol Genet Metab. 2016. PMID: 27477829 Free PMC article.

3

The quality of metabolic newborn screening specialty care services: results of a survey of primary care providers.

Anderson CS, Bentler K, Vanderburg N, Berry SA. Anderson CS, et al. Among authors: bentler k. Minn Med. 2012 Oct;95(10):45-9. Minn Med. 2012. PMID: 23193706

4

Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation.

Sarafoglou K, Tridgell AH, Bentler K, Redlinger-Grosse K, Berry SA, Schimmenti LA. Sarafoglou K, et al. Among authors: bentler k. Clin Genet. 2010 Aug;78(2):191-4. doi: 10.1111/j.1399-0004.2009.01368.x. Epub 2010 Jan 4. Clin Genet. 2010. PMID: 20095986

5

High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.

Sarafoglou K, Bentler K, Gaviglio A, Redlinger-Grosse K, Anderson C, McCann M, Bloom B, Babovic-Vuksanovic D, Gavrilov D, Berry SA. Sarafoglou K, et al. Among authors: bentler k. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S169-73. doi: 10.1007/s10545-009-1135-7. Epub 2009 Sep 7. J Inherit Metab Dis. 2009. PMID: 19757147

6

Expanded newborn screening identifies maternal primary carnitine deficiency.

Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N. Schimmenti LA, et al. Among authors: bentler k. Mol Genet Metab. 2007 Apr;90(4):441-5. doi: 10.1016/j.ymgme.2006.10.003. Epub 2006 Nov 28. Mol Genet Metab. 2007. PMID: 17126586

7

Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening.

Sarafoglou K, Matern D, Redlinger-Grosse K, Bentler K, Gaviglio A, Harding CO, Rinaldo P. Sarafoglou K, et al. Among authors: bentler k. Pediatrics. 2011 Jul;128(1):e246-50. doi: 10.1542/peds.2010-3918. Epub 2011 Jun 13. Pediatrics. 2011. PMID: 21669895

8

Expanded newborn screening for detection of vitamin B12 deficiency.

Sarafoglou K, Rodgers J, Hietala A, Matern D, Bentler K. Sarafoglou K, et al. Among authors: bentler k. JAMA. 2011 Mar 23;305(12):1198-200. doi: 10.1001/jama.2011.310. JAMA. 2011. PMID: 21427371 No abstract available.

9

A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALE.

Liu Y, Bentler K, Coffee B, Chhay JS, Sarafoglou K, Fridovich-Keil JL. Liu Y, et al. Among authors: bentler k. JIMD Rep. 2013;7:89-98. doi: 10.1007/8904_2012_153. Epub 2012 Jul 1. JIMD Rep. 2013. PMID: 23430501 Free PMC article.

10

Recessive mutations in PCBD1 cause a new type of early-onset diabetes.

Simaite D, Kofent J, Gong M, Rüschendorf F, Jia S, Arn P, Bentler K, Ellaway C, Kühnen P, Hoffmann GF, Blau N, Spagnoli FM, Hübner N, Raile K. Simaite D, et al. Among authors: bentler k. Diabetes. 2014 Oct;63(10):3557-64. doi: 10.2337/db13-1784. Epub 2014 May 21. Diabetes. 2014. PMID: 24848070 Free article.

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