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Testing for Inborn Errors of Metabolism
Continuum, 2018This article provides an overview of genetic metabolic disorders that can be identified by metabolic tests readily available to neurologists, such as tests for ammonia, plasma amino acids, and urine organic acids. The limitations of these tests are also discussed, as they only screen for a subset of the many inborn errors of metabolism that exist ...
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Inborn errors of metabolism and pregnancy
Journal of Inherited Metabolic Disease, 2000AbstractAn increasing number of women with inborn errors of metabolism are now reaching child‐bearing age. For certain disorders there are maternal risks associated with pregnancy. These may be related to an increased likelihood of metabolic decompensation (e.g.
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Journal of Pediatric Endocrinology and Metabolism, 2020
Wieland, Kiess +2 more
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Wieland, Kiess +2 more
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Inborn errors of metabolism and pregnancy
American Journal of Obstetrics & Gynecology MFMAs the diagnosis and treatment of patients with inborn errors of metabolism has improved dramatically over the years, more people with these conditions are surviving into child-bearing years. Given the changes in metabolism throughout pregnancy, this time presents a unique challenge in their care. Overall metabolic shifts in pregnancy go from anabolism
Kristen, Murphey +2 more
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