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Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria
BACKGROUND: L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria neurometabolic disease that is inherited as an autosomal recessive mode and have a variety of symptoms, such as psychomotor developmental retardation, epilepsy, cerebral symptoms as well as increased concentrations of 2-hy...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | BMC Med Genet |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6137868/ https://ncbi.nlm.nih.gov/pubmed/30217188 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0675-9 |
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