L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability.
about
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.Treatment, Therapy and Management of Metabolic Epilepsy: A Systematic Review.
P2860
L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
L-2-hydroxyglutaric aciduria: ...... amilial phenotype variability.
@en
L-2-hydroxyglutaric aciduria: ...... amilial phenotype variability.
@nl
type
label
L-2-hydroxyglutaric aciduria: ...... amilial phenotype variability.
@en
L-2-hydroxyglutaric aciduria: ...... amilial phenotype variability.
@nl
prefLabel
L-2-hydroxyglutaric aciduria: ...... amilial phenotype variability.
@en
L-2-hydroxyglutaric aciduria: ...... amilial phenotype variability.
@nl
P2093
P2860
P1476
L-2-hydroxyglutaric aciduria: ...... amilial phenotype variability.
@en
P2093
P2860
P2888
P304
P356
10.1007/S10545-008-0934-6
P478
31 Suppl 2
P577
2008-09-13T00:00:00Z