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Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms. [PDF]
Ann Afr MedSadaria R.
europepmc +1 more source
A Longitudinal Study of Urea Cycle Disorders
Molecular Genetics and Metabolism, 2014 The Urea Cycle Disorders Consortium (UCDC) is a member of the NIH funded Rare Diseases Clinical Research Network and is performing a longitudinal study of 8 urea cycle disorders (UCDs) with initial enrollment beginning in 2006. The consortium consists of
Mark L Batshaw +2 more
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The Incidence of Urea Cycle Disorders
Molecular Genetics and Metabolism, 2013 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 6million births and data from
Stefan Kolker +2 more
exaly +2 more sources