SCOPUS 정보 검색 플랫폼

Volumn , Issue , 2010, Pages 251-261

Newborn screening for inherited metabolic disease

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84892002073 PISSN: None EISSN: None Source Type: Book
DOI: 10.1007/978-3-540-74723-9_27 Document Type: Chapter

Times cited : (7)

References (9)

1
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- Improved specificity of newborn screening for congenital adrenal hyperplasia by second tier steroid profiling using tandem mass spectrometry
- Lacey JM, Minutti CZ, Magera MJ, Tausher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D (2004) Improved specificity of newborn screening for congenital adrenal hyperplasia by second tier steroid profiling using tandem mass spectrometry. Clin Chem 50:621-625
- (2004) Clin Chem , vol.50 , pp. 621-625
- Lacey, J.M.¹ Minutti, C.Z.² Magera, M.J.³ Tausher, A.L.⁴ Casetta, B.⁵ McCann, M.⁶ Lymp, J.⁷ Hahn, S.H.⁸ Rinaldo, P.⁹ Matern, D.¹⁰

2
- 34548476003
- Reduction of the false positive rate in newborn screening by implementation of MS/MS-based second tier tests: The Mayo Clinic experience (2004-2007)
- Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P (2007) Reduction of the false positive rate in newborn screening by implementation of MS/MS-based second tier tests: the Mayo Clinic experience (2004-2007). J Inherit Metab Dis 30:585-592
- (2007) J Inherit Metab Dis , vol.30 , pp. 585-592
- Matern, D.¹ Tortorelli, S.² Oglesbee, D.³ Gavrilov, D.⁴ Rinaldo, P.⁵

3
- 3442878589
- 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 N, Schulge A, Cheillan D, Dorche C, Chace DH, Lymp JF, Limmerman D, Rinaldo P, Matern D (2004) Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 89:3687-3693
- (2004) J Clin Endocrinol Metab , vol.89 , pp. 3687-3693
- Minutti, C.Z.¹ Lacey, J.M.² Magera, M.J.³ Hahn, S.H.⁴ McCann, N.⁵ Schulge, A.⁶ Cheillan, D.⁷ Dorche, C.⁸ Chace, D.H.⁹ Lymp, J.F.¹⁰ Limmerman, D.¹¹ Rinaldo, P.¹² Matern, D.¹³

4
- 40449137618
- 2nd-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, Tertorelli S, Rinaldo P, Matern D (2008) 2nd-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). Clin Chem 54:542-549
- (2008) Clin Chem , vol.54 , pp. 542-549
- Oglesbee, D.¹ Sanders, K.A.² Lacey, J.M.³ Magera, M.J.⁴ Casetta, B.⁵ Strauss, K.A.⁶ Tertorelli, S.⁷ Rinaldo, P.⁸ Matern, D.⁹

5
- 33845972665
- Making the case for objective performance metrics in newborn screening by tandem mass spectrometry
- Rinaldo P, Zafari S, Tortorelli S, Matern D (2006) Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. MRDD Res Rev 12:255-261
- (2006) MRDD Res Rev , vol.12 , pp. 255-261
- Rinaldo, P.¹ Zafari, S.² Tortorelli, S.³ Matern, D.⁴

6
- 39449083613
- Acylcarnitine profile analysis
- Rinaldo P, Cowan TM, Matern D (2008) Acylcarnitine profile analysis. Genet Med 10:151-156
- (2008) Genet Med , vol.10 , pp. 151-156
- Rinaldo, P.¹ Cowan, T.M.² Matern, D.³

7
- 42449118446
- Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots
- Turgeon C, Magera MJ, Allard P, Torterelli S, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Matern D (2008) Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem 54:657-664
- (2008) Clin Chem , vol.54 , pp. 657-664
- Turgeon, C.¹ Magera, M.J.² Allard, P.³ Torterelli, S.⁴ Gavrilov, D.⁵ Oglesbee, D.⁶ Raymond, K.⁷ Rinaldo, P.⁸ Matern, D.⁹

8
- 33747591403
- Newborn screening: Toward a uniform screening panel and system (main report)
- Watson MS, Lloyd-Puryear MA, Mann MY, Rinaldo P, Howell RR (eds) (2006a) Newborn screening: toward a uniform screening panel and system (main report). Genet Med 8(Supplement):12S-252S
- (2006) Genet Med , vol.8 , Issue.SUPPL.
- Watson, M.S.¹ Lloyd-Puryear, M.A.² Mann, M.Y.³ Rinaldo, P.⁴ Howell, R.R.⁵

9
- 33747591403
- Newborn screening: Toward a uniform screening panel and system (executive summary)
- Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR (eds) (2006b) Newborn screening: toward a uniform screening panel and system (executive summary). Genet Med 8(Supplement):1S-11S
- (2006) Genet Med , vol.8 , Issue.SUPPL.
- Watson, M.S.¹ Mann, M.Y.² Lloyd-Puryear, M.A.³ Rinaldo, P.⁴ Howell, R.R.⁵

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.