REFERÊNCIAS BIBLIOGRÁFICAS

     

Teste do Pezinho Expandido DLE


1. Wilcken B. Recent advances in newborn screening. J Inherit Metab Dis. 2007 Apr;30(2):129-33. Epub 2007 Mar 6. Review. PMID: 17342450 [PubMed - indexed for MEDLINE]

2. Kayton A. Newborn screening: a literature review. Neonatal Netw. 2007 Mar-Apr;26(2):85-95. Review. PMID: 17402600 [PubMed - indexed for MEDLINE]

3. Cipriano LE, Rupar CA, Zaric GS. The cost-effectiveness of expanding newborn screening for up to 21 inherited metabolic disorders using tandem mass spectrometry: results from a decision-analytic model. Value Health. 2007 Mar-Apr;10(2):83-97. PMID: 17391418 [PubMed - indexed for MEDLINE]

4. Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Gu XF. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four-year report. J Inherit Metab Dis. 2007 Mar 8; [Epub ahead of print] PMID: 17347912 [PubMed - as supplied by publisher]

5. Joshi SN, Venugopalan P. Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman. Brain Dev. 2007 Feb 19; [Epub ahead of print] PMID: 17314022 [PubMed - as supplied by publisher]

6. Kobayashi H, Hasegawa Y, Endo M, Purevsuren J, Yamaguchi S. ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders. J Chromatogr B Analyt Technol Biomed Life Sci. 2007 Feb 12; [Epub ahead of print] PMID: 17301002 [PubMed - as supplied by publisher]

7. Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med. 2007 Feb;9(2):108-16. PMID: 17304052 [PubMed - indexed for MEDLINE]

8. Tran K, Banerjee S, Li H, Noorani HZ, Mensinkai S, Dooley K. Clinical efficacy and cost-effectiveness of newborn screening for medium chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. Clin Biochem. 2007 Feb;40(3-4):235-41. Epub 2006 Dec 5. PMID: 17222812 [PubMed - indexed for MEDLINE]

9. Tan ES, Wiley V, Carpenter K, Wilcken B. Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. Mol Genet Metab. 2007 Apr;90(4):446-8. Epub 2007 Jan 4. PMID: 17207649 [PubMed - in process]

10. 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. Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab. 2007 Apr;90(4):441-5. Epub 2006 Nov 28. PMID: 17126586 [PubMed - in process]

11. Eaton RB, et al: Newborn screening for congenital toxoplasmosis. Oral presentation on the 13th National Neonatal Screening Symposium, March 1-4, San Diego, Califórnia, USA, 1998.

12. Wolf B, et al: Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzimatic and molecular analyses. Prenatal Diagnosis 1998; 18:117-122.

13. The Metabolic and Molecular Bases of Inherited Disease - Scriver, Charles R. - 7ª edição - Volumes 1 a 3.

14. Donohove PA, Parker K, Migeon CJ. Congenital Adrenal Hyperplasia. IN: Scriver CR, et al (eds.): The Metabolic and Molecular Basis os Inherited Disease. 7th ed., New York: McGraw Hill, 1995.

15. Segal S, Berry GT: Disorders of Galactose Metabolism. IN: Scriver CR, et al (eds.): The Metabolic and Molecular Basis of Inherited Disease. 7th ed., New York: McGraw Hill, 1995.

16. Khaler SG, Chace DH, Hillman SL, Millington DS, Roe C.Quantitative newborn screening of amino acids and acylcarnitines by tandem mass spectrometry. 33rd Annual Symposium. Society for the Study of the Inborn Errors of Metabolism, Toledo, España. Poster Nº 139, 1995.

17. Iafolla AK, Thompson RJ, Roe CR. Medium chain acyl-CoA-dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr 124:409-415, 1994.

18. Sweetman L. Newborn Screening by tandem mass spectrometry (MS-MS). Clinical Chemistry 42:345, 1996.

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