Inborn errors of metabolism in a tertiary care hospital of Eastern India
作者： Moushumi Lodh , Anand Kerketta
DOI: 10.1007/S13312-013-0303-X
关键词:
摘要: Inborn errors of metabolism are a challenge on diagnostic and therapeutic level. All newborn babies in our hospital were screened over 4 years. 91 (15%) neonates screen positive for IEM, G6PD being the most common. Early detection treatment can improve outcomes.
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sci-hub.se 参考文章(10)
Stefan K.G. Grebe, Ravinder J. Singh, LC-MS/MS in the Clinical Laboratory – Where to From Here? The Clinical biochemist. Reviews / Australian Association of Clinical Biochemists. ,vol. 32, pp. 5- 31 ,(2011)
Ananth N Rao, J Kavitha, Minakshi Koch, V Suresh Kumar, None, Inborn errors of metabolism: Review and data from a tertiary care center. Indian Journal of Clinical Biochemistry. ,vol. 24, pp. 215- 222 ,(2009) , 10.1007/S12291-009-0041-Y
A. Radha Rama Devi, S. M. Naushad, Newborn screening in India. Indian Journal of Pediatrics. ,vol. 71, pp. 157- 160 ,(2004) , 10.1007/BF02723099
Mritunjay Pao, Anjali Kulkarni, Vidya Gupta, Sushma Kaul, Saroja Balan, Neonatal screening for glucose-6-phosphate dehydrogenase deficiency. Indian Journal of Pediatrics. ,vol. 72, pp. 835- 837 ,(2005) , 10.1007/BF02731109
Seema Kapoor, Neerja Gupta, Madhulika Kabra, None, National newborn screening program — Still a hype or a hope now? Indian Pediatrics. ,vol. 50, pp. 639- 643 ,(2013) , 10.1007/S13312-013-0187-9
M. Alfadhel, K. Al-Thihli, H. Moubayed, W. Eyaid, M. Al-Jeraisy, Drug treatment of inborn errors of metabolism: a systematic review Archives of Disease in Childhood. ,vol. 98, pp. 454- 461 ,(2013) , 10.1136/ARCHDISCHILD-2012-303131
Shaik Abdul Latheef, A database for inborn errors of metabolism in the Indian state of Andhra Pradesh Bioinformation. ,vol. 4, pp. 276- 277 ,(2010) , 10.6026/97320630004276
SnehalataC Gupte, PratimaU Patel, JasmineM Ranat, G6PD deficiency in Vataliya prajapati community settled in Surat Indian Journal of Medical Sciences. ,vol. 59, pp. 51- 56 ,(2005) , 10.4103/0019-5359.13903
Carmencita D. Padilla, Bradford L. Therrell, Newborn screening in the Asia Pacific region Journal of Inherited Metabolic Disease. ,vol. 30, pp. 490- 506 ,(2007) , 10.1007/S10545-007-0687-7
K K Diwakar, Urvi Sanghvi, Universal newborn screening for congenital hypothyroidism. Indian Pediatrics. ,vol. 45, pp. 331- ,(2008)