Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
about
Expanding the genetic spectrum of paroxysmal dyskinesias.Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
P2860
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
@en
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
@nl
type
label
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
@en
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
@nl
prefLabel
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
@en
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
@nl
P2093
P2860
P50
P356
P1433
P1476
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
@en
P2093
Anneke J A Kievit
Chin-Song Lu
Egberto Reis Barbosa
Frans W Verheijen
George J G Ruijter
Guido J Breedveld
Hsin Fen Chien
Hsiu-Chen Chang
Josja Graafland
Kees Schoonderwoerd
P2860
P304
P356
10.1002/MDS.26610
P407
P577
2016-04-19T00:00:00Z