Clinical and biochemical characterization of four patients with mutations in ECHS1.
about
Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.Enzymes involved in branched-chain amino acid metabolism in humans.A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.Enoyl-CoA hydratase-1 regulates mTOR signaling and apoptosis by sensing nutrients.New insights into the phenotype of FARS2 deficiency.Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.Cerebral Manifestations of Mitochondrial Disorders.Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
P2860
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P2860
Clinical and biochemical characterization of four patients with mutations in ECHS1.
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 and biochemical characterization of four patients with mutations in ECHS1.
@ast
Clinical and biochemical characterization of four patients with mutations in ECHS1.
@en
type
label
Clinical and biochemical characterization of four patients with mutations in ECHS1.
@ast
Clinical and biochemical characterization of four patients with mutations in ECHS1.
@en
prefLabel
Clinical and biochemical characterization of four patients with mutations in ECHS1.
@ast
Clinical and biochemical characterization of four patients with mutations in ECHS1.
@en
P2093
P2860
P1476
Clinical and biochemical characterization of four patients with mutations in ECHS1
@en
P2093
Alberto Burlina
Frédéric M Vaz
Hans R Waterham
Jirair K Bedoyan
Johan L K Van Hove
Jos P N Ruiter
Kaitlyn Bloom
Katherine Gowan
Kathryn Chatfield
Marisa W Friederich
P2860
P2888
P356
10.1186/S13023-015-0290-1
P577
2015-06-18T00:00:00Z
P5875
P6179
1047700703