摘要: Expanded newborn screening (NBS) is aimed for early detection and intervention of treatable inborn errors metabolism also to establish incidence these disorders in this part the globe. The first expanded NBS programme initiated capital city Andhra Pradesh screen all newborns born four major Government Maternity Hospitals Hyderabad by heel prick capillary blood collected on S&S 903 filter paper. Chromatographic (TLC HPLC), electrophoretic (cellulose acetate agarose) ELISA based assays have been employed common metabolism. This study has shown a high prevalence Inborn Congenital hypothyroidsm most disorder (1in1700) followed congenital Adrenal Hyperplasia (1 2575) Hyperhomocystenemia (1in100). Interestingly, very extent 1 every thousand was observed. reveals importance India, necessitating nation wide large-scale screening.
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sci-hub.se 参考文章(3)
Alberto J Garcia, Rafael Apitz-Castro, Plasma total homocysteine quantification: an improvement of the classical high-performance liquid chromatographic method with fluorescence detection of the thiol-SBD derivatives. Journal of Chromatography B. ,vol. 779, pp. 359- 363 ,(2002) , 10.1016/S1570-0232(02)00401-4
Robert L. Heinrikson, Stephen C. Meredith, Amino acid analysis by reverse-phase high-performance liquid chromatography: precolumn derivatization with phenylisothiocyanate. Analytical Biochemistry. ,vol. 136, pp. 65- 74 ,(1984) , 10.1016/0003-2697(84)90307-5
N. Appaji Rao, A. Radha Rama Devi, H. S. Savithri, S. Venkat Rao, A. H. Bittles, Neonatal screening for amino acidaemias in Karnataka, south India. Clinical Genetics. ,vol. 34, pp. 60- 63 ,(2008) , 10.1111/J.1399-0004.1988.TB02616.X