A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening

Isovaleric acidemia (IVA) is an inborn error of leucine metabolism that can cause significant morbidity and mortality. Since the implementation, in many states and countries, of newborn screening (NBS) by tandem mass spectrometry, IVA can now be diagnosed presymptomatically. Molecular genetic analys...

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Hlavní autoři: Ensenauer, Regina, Vockley, Jerry, Willard, Jan-Marie, Huey, Joseph C., Sass, Jörn Oliver, Edland, Steven D., Burton, Barbara K., Berry, Susan A., Santer, René, Grünert, Sarah, Koch, Hans-Georg, Marquardt, Iris, Rinaldo, Piero, Hahn, Sihoun, Matern, Dietrich
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2004
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182150/
https://ncbi.nlm.nih.gov/pubmed/15486829
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