期刊
MOLECULAR GENETICS AND METABOLISM
卷 110, 期 1-2, 页码 179-180出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2013.07.008
关键词
Incidence; Urea cycle; Inborn error of metabolism; Newborn screening; Hyperammonemia; Ammonia
资金
- NIH Office of Rare Diseases Research (ORDR) [U54HD061221]
- National Center for Advancing Translational Science (NCATS)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- project European registry and network for intoxication type metabolic diseases (E-IMD, EAHC) [2010 12 01]
- European Union
A key question for urea cycle disorders is their incidence. In the United States two UCDs, argininosuccinic synthetase and lyase deficiency, are currently detected by newborn screening. We used newborn screening data on over 6 million births and data from the large US and European longitudinal registries to determine how common these conditions are. The incidence for the United States is predicted to be 1 urea cycle disorder patient for every 35,000 births presenting about 113 new patients per year across all age groups. (C) 2013 Published by Elsevier Inc.
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