Matern D - Search Results

1

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

2

Fatty acid oxidation disorders.

Rinaldo P, Matern D, Bennett MJ. Rinaldo P, et al. Among authors: matern d. Annu Rev Physiol. 2002;64:477-502. doi: 10.1146/annurev.physiol.64.082201.154705. Annu Rev Physiol. 2002. PMID: 11826276 Review.

3

Liquid chromatographic-tandem mass spectrometric method for the determination of 5-hydroxyindole-3-acetic acid in urine.

Kroll CA, Magera MJ, Helgeson JK, Matern D, Rinaldo P. Kroll CA, et al. Among authors: matern d. Clin Chem. 2002 Nov;48(11):2049-51. Clin Chem. 2002. PMID: 12406994 No abstract available.

4

The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.

Nagan N, Kruckeberg KE, Tauscher AL, Bailey KS, Rinaldo P, Matern D. Nagan N, et al. Among authors: matern d. Mol Genet Metab. 2003 Apr;78(4):239-46. doi: 10.1016/s1096-7192(03)00034-9. Mol Genet Metab. 2003. PMID: 12706374

5

Liquid chromatography-tandem mass spectrometry method for the determination of vanillylmandelic acid in urine.

Magera MJ, Thompson AL, Matern D, Rinaldo P. Magera MJ, et al. Among authors: matern d. Clin Chem. 2003 May;49(5):825-6. doi: 10.1373/49.5.825. Clin Chem. 2003. PMID: 12709381 No abstract available.

6

Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Gillingham MB, Connor WE, Matern D, Rinaldo P, Burlingame T, Meeuws K, Harding CO. Gillingham MB, et al. Among authors: matern d. Mol Genet Metab. 2003 Jun;79(2):114-23. doi: 10.1016/s1096-7192(03)00073-8. Mol Genet Metab. 2003. PMID: 12809642 Free PMC article. Clinical Trial.

7

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J. Matern D, et al. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. Pediatrics. 2003. PMID: 12837870 Review.

8

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

9

Recent developments and new applications of tandem mass spectrometry in newborn screening.

Rinaldo P, Tortorelli S, Matern D. Rinaldo P, et al. Among authors: matern d. Curr Opin Pediatr. 2004 Aug;16(4):427-33. doi: 10.1097/01.mop.0000133635.79661.84. Curr Opin Pediatr. 2004. PMID: 15273505 Review.

10

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

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