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Musculoskeletal manifestations of neonatal nonketotic hyperglycinemia

PURPOSE: Neonatal nonketotic hyperglycinemia is an autosomal recessive inborn disorder of glycine metabolism in which large quantities of glycine accumulate in all body tissues. It is characterized by a progressive lethargy, hypotonia, myoclonic jerks, and early death secondary to respiratory proble...

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Hlavní autoři: Ramirez, Norman, Flynn, John M., Casalduc, Francisco, Rodriguez, Stephanie, Cornier, Alberto S., Carlo, Simón
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3400000/
https://ncbi.nlm.nih.gov/pubmed/23814620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11832-012-0407-1
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