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Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.
Nonketotic hyperglycinemia (NKH) is an autosomal recessive metabolic disorder caused by the defects in the glycine cleavage system (GCS; EC 2.1.2.10), a multienzyme system that consists of four individual components. NKH is a rare disorder in many countries, but with a very high incidence in norther...
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| Główni autorzy: | , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
1992
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC443076/ https://ncbi.nlm.nih.gov/pubmed/1634607 |
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