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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2004
Assuntos:
Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182150/
https://ncbi.nlm.nih.gov/pubmed/15486829
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares