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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: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Springer Berlin Heidelberg
2012
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| 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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