Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series

Glutaric aciduria type I (GA-I) is an inherited metabolic disorder that may lead to severe motor disorder and cognitive impairment. GA-I is now included in the newborn screening programme in many countries as early detection allows for prompt treatment and effectively reduces the risk of poor develo...

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Publicat a:JIMD Rep
Autors principals: Brown, Amy, Crowe, Louise, Beauchamp, Miriam H., Anderson, Vicki, Boneh, Avihu
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2014
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4361926/
https://ncbi.nlm.nih.gov/pubmed/25503300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_360
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