Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
about
The many faces of paediatric mitochondrial disease on neuroimaging.Identification of FBXL4 as a Metastasis Associated Gene in Prostate Cancer.Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease.A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion.Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.
P2860
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P2860
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Clinical, morphological, bioch ...... ct related to FBXL4 mutations.
@en
type
label
Clinical, morphological, bioch ...... ct related to FBXL4 mutations.
@en
prefLabel
Clinical, morphological, bioch ...... ct related to FBXL4 mutations.
@en
P2093
P2860
P50
P1476
Clinical, morphological, bioch ...... ct related to FBXL4 mutations.
@en
P2093
Anna Schossig
Caroline Biagosch
Charles M Lourenco
Daniela Karall
Ekkehard Wilichowski
Fatma Al Jasmi
Felix Distelmaier
Jose E Abdenur
Jozef Hertecant
Karen Leydiker
P2860
P2888
P304
P356
10.1007/S10545-015-9836-6
P50
P577
2015-04-14T00:00:00Z