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An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia. [electronic resource] by
- Lisyová, Jana
- Chandoga, Ján
- Jungová, Petra
- Repiský, Marcel
- Knapková, Mária
- Machková, Martina
- Dluholucký, Svetozár
- Behúlová, Darina
- Šaligová, Jana
- Potočňáková, Ľudmila
- Lysinová, Miroslava
- Böhmer, Daniel
Producer: 20190225
In:
BMC medical genetics vol. 19
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107.
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108.
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Studies on the mechanism of electron bifurcation catalyzed by electron transferring flavoprotein (Etf) and butyryl-CoA dehydrogenase (Bcd) of Acidaminococcus fermentans. [electronic resource] by
- Chowdhury, Nilanjan Pal
- Mowafy, Amr M
- Demmer, Julius K
- Upadhyay, Vikrant
- Koelzer, Sebastian
- Jayamani, Elamparithi
- Kahnt, Joerg
- Hornung, Marco
- Demmer, Ulrike
- Ermler, Ulrich
- Buckel, Wolfgang
Producer: 20140422
In:
The Journal of biological chemistry vol. 289
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The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. [electronic resource] by
- Pedersen, Christina B
- Kølvraa, Steen
- Kølvraa, Agnete
- Stenbroen, Vibeke
- Kjeldsen, Margrethe
- Ensenauer, Regina
- Tein, Ingrid
- Matern, Dietrich
- Rinaldo, Piero
- Vianey-Saban, Christine
- Ribes, Antonia
- Lehnert, Willy
- Christensen, Ernst
- Corydon, Thomas J
- Andresen, Brage S
- Vang, Søren
- Bolund, Lars
- Vockley, Jerry
- Bross, Peter
- Gregersen, Niels
Producer: 20080730
In:
Human genetics vol. 124
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Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. [electronic resource] by
- Tein, Ingrid
- Elpeleg, Orly
- Ben-Zeev, Bruria
- Korman, Stanley H
- Lossos, Alexander
- Lev, Dorit
- Lerman-Sagie, Tally
- Leshinsky-Silver, Esther
- Vockley, Jerry
- Berry, Gerard T
- Lamhonwah, Anne-Marie
- Matern, Dietrich
- Roe, Charles R
- Gregersen, Niels
Producer: 20080403
In:
Molecular genetics and metabolism vol. 93
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Gene expression profiles in fathead minnow exposed to 2,4-DNT: correlation with toxicity in mammals. [electronic resource] by
- Wintz, Henri
- Yoo, Leslie J
- Loguinov, Alex
- Wu, Ying-Ying
- Steevens, Jeffrey A
- Holland, Ricky D
- Beger, Richard D
- Perkins, Edward J
- Hughes, Owen
- Vulpe, Chris D
Producer: 20070313
In:
Toxicological sciences : an official journal of the Society of Toxicology vol. 94
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118.
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Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy. [electronic resource] by
- Westermann, C M
- Dorland, L
- Votion, D M
- de Sain-van der Velden, M G M
- Wijnberg, I D
- Wanders, R J A
- Spliet, W G M
- Testerink, N
- Berger, R
- Ruiter, J P N
- van der Kolk, J H
Producer: 20080825
In:
Neuromuscular disorders : NMD vol. 18
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119.
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Effects of ERK1/2/PPARα/SCAD signal pathways on cardiomyocyte hypertrophy induced by insulin-like growth factor 1 and phenylephrine. [electronic resource] by
- Huang, Qiuju
- Huang, Jinxian
- Zeng, Zhenhua
- Luo, Jiani
- Liu, Peiqing
- Chen, Shaorui
- Liu, Bing
- Pan, Xuediao
- Zang, Linquan
- Zhou, Sigui
Producer: 20150519
In:
Life sciences vol. 124
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Effect of in vivo administration of ethylmalonic acid on energy metabolism in rat tissues. [electronic resource] by
- Ferreira, Gustavo da C
- André, Karina Roth
- Schuck, Patrícia Fernanda
- Viegas, Carolina M
- Tonin, Anelise
- Coelho, Daniella de Moura
- Wyse, Angela T S
- Wannmacher, Clóvis M D
- Vargas, Carmen R
- Wajner, Moacir
Producer: 20060807
In:
Metabolic brain disease vol. 21
Availability: No items available.
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