Matern D - Search Results

1

Comparison of multiple steroid concentrations in serum and dried blood spots throughout the day of patients with congenital adrenal hyperplasia.

Sarafoglou K, Himes JH, Lacey JM, Netzel BC, Singh RJ, Matern D. Sarafoglou K, et al. Among authors: matern d. Horm Res Paediatr. 2011;75(1):19-25. doi: 10.1159/000315910. Epub 2010 Aug 25. Horm Res Paediatr. 2011. PMID: 20798478 Free PMC article.

2

Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry.

Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D. Lacey JM, et al. Among authors: matern d. Clin Chem. 2004 Mar;50(3):621-5. doi: 10.1373/clinchem.2003.027193. Epub 2003 Dec 4. Clin Chem. 2004. PMID: 14656905

3

Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.

Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, Cheillan D, Dorche C, Chace DH, Lymp JF, Zimmerman D, Rinaldo P, Matern D. Minutti CZ, et al. Among authors: matern d. J Clin Endocrinol Metab. 2004 Aug;89(8):3687-93. doi: 10.1210/jc.2003-032235. J Clin Endocrinol Metab. 2004. PMID: 15292289

4

Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).

Oglesbee D, Sanders KA, Lacey JM, Magera MJ, Casetta B, Strauss KA, Tortorelli S, Rinaldo P, Matern D. Oglesbee D, et al. Among authors: matern d. Clin Chem. 2008 Mar;54(3):542-9. doi: 10.1373/clinchem.2007.098434. Epub 2008 Jan 4. Clin Chem. 2008. PMID: 18178665

5

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: matern d. JAMA. 2011 Mar 23;305(12):1198-200. doi: 10.1001/jama.2011.310. JAMA. 2011. PMID: 21427371 No abstract available.

6

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: matern d. Pediatrics. 2011 Jul;128(1):e246-50. doi: 10.1542/peds.2010-3918. Epub 2011 Jun 13. Pediatrics. 2011. PMID: 21669895

7

Potential of inner cell mass outgrowth and amino acid turnover as markers of quality in the in vitro fertilization laboratory.

Gada RP, Daftary GS, Walker DL, Lacey JM, Matern D, Morbeck DE. Gada RP, et al. Among authors: matern d. Fertil Steril. 2012 Oct;98(4):863-9.e1. doi: 10.1016/j.fertnstert.2012.06.012. Epub 2012 Jul 6. Fertil Steril. 2012. PMID: 22771026 Free article.

8

Precision newborn screening for lysosomal disorders.

Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Mørkrid L, Rinaldo P. Minter Baerg MM, et al. Among authors: matern d. Genet Med. 2018 Aug;20(8):847-854. doi: 10.1038/gim.2017.194. Epub 2017 Nov 9. Genet Med. 2018. PMID: 29120458 Free article.

9

Laboratory monitoring of patients with hereditary tyrosinemia type I.

Schultz MJ, Netzel BC, Singh RH, Pino GB, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Tortorelli S, Smith WE, Matern D. Schultz MJ, et al. Among authors: matern d. Mol Genet Metab. 2020 Aug;130(4):247-254. doi: 10.1016/j.ymgme.2020.06.001. Epub 2020 Jun 6. Mol Genet Metab. 2020. PMID: 32546364

10

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.

Sanders KA, Gavrilov DK, Oglesbee D, Raymond KM, Tortorelli S, Hopwood JJ, Lorey F, Majumdar R, Kroll CA, McDonald AM, Lacey JM, Turgeon CT, Tucker JN, Tang H, Currier R, Isaya G, Rinaldo P, Matern D. Sanders KA, et al. Among authors: matern d. Int J Neonatal Screen. 2020 Jun;6(2):44. doi: 10.3390/ijns6020044. Epub 2020 May 30. Int J Neonatal Screen. 2020. PMID: 32802993 Free PMC article.

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