Phenotypic spectrum of variants in the beta-oxidation enoyl-CoA hydratase-1 (ECHS-1) gene

2020 ◽  
Vol 29 ◽  
pp. 101-102
Author(s):  
J. Finsterer
Keyword(s):  
Beta Oxidation ◽  
Phenotypic Spectrum ◽  
Enoyl Coa Hydratase

Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency

2020 ◽  
Vol 28 ◽  
pp. 151-158
Author(s):  
Silvia Masnada ◽  
Cecilia Parazzini ◽  
Paolo Bini ◽  
Mario Barbarini ◽  
Luisella Alberti ◽  
...  
Keyword(s):  
Short Chain ◽  
Phenotypic Spectrum ◽  
Enoyl Coa Hydratase

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism: Phenotypic spectrum of ATP1A3-associated disorders

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
K Brockmann ◽  
H Rosewich ◽  
H Thiele ◽  
U Maschke ◽  
P Huppke ◽  
...  
Keyword(s):  
Rapid Onset ◽  
Alternating Hemiplegia Of Childhood ◽  
Phenotypic Spectrum

Der Angiotensin-Rezeptor-Blocker Telmisartan induziert Gene der hepatischen beta-Oxidation und aktiviert den Peroxisom Proliferator aktivierten Rezeptor alpha

2007 ◽  
Vol 2 (S 1) ◽  
Author(s):  
N Frost ◽  
M Clemenz ◽  
A Foryst-Ludwig ◽  
M Hartge ◽  
C Sprang ◽  
...  
Keyword(s):  
Beta Oxidation

Phenotypic spectrum in Weyers acrofacial dysostosis: A case report

2017 ◽  
Author(s):  
Chiara Rubino ◽  
Stefano Stagi ◽  
Chiara Petrolini ◽  
Daniela Gioe ◽  
Spina Luisa La ◽  
...  
Keyword(s):  
Case Report ◽  
Phenotypic Spectrum
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