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Institut für funktionale Gen-Analytik (IFGA)
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(5)
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3-hydroxyisobutyrate dehydrogenase
(1)
3-hydroxyisobutyric acid dehydrogenase deficiency
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3-hydroxyisobutyric aciduria
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HIBADH
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HIBADH deficiency
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valine catabolic pathway
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Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids
(2012)
van Weeghel, Michel
;
te Brinke, Heleen
;
van Lenthe, Henk
;
Kulik, Wim
;
Minkler, Paul E.
;
Stoll, Maria S. K.
;
Sass, Jörn Oliver
;
Janssen, Uwe
;
Stoffel, Wilhelm
;
Schwab, K. Otfried
;
Wanders, Ronald J. A.
;
Hoppel, Charles L.
;
Houten, Sander M.
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene
(2003)
Ofman, Rob
;
Ruiter, Jos P. N.
;
Feenstra, Marike
;
Duran, Marinus
;
Poll-The, Bwee Tien
;
Zschocke, Johannes
;
Ensenauer, Regina
;
Lehnert, Willy
;
Sass, Jörn Oliver
;
Sperl, Wolfgang
;
Wanders, Ronald J. A.
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria
(2015)
Hagen, Jacob
;
te Brinke, Heleen
;
Wanders, Ronald J A
;
Knegt, Alida C.
;
Oussoren, Esmee
;
Hoogeboom, A Jeannette M
;
Ruijter, George J G
;
Becker, Daniel
;
Schwab, Karl Otfried
;
Franke, Ingo
;
Duran, Marinus
;
Waterham, Hans R.
;
Sass, Jörn Oliver
;
Houten, Sander M.
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival
(2010)
Rauschenberger, Katharina
;
Schöler, Katja
;
Sass, Jörn Oliver
;
Sauer, Sven
;
Djuric, Zdenka
;
Rumig, Cordula
;
Wolf, Nicole I.
;
Okun, Jürgen G.
;
Kölker, Stefan
;
Schwarz, Heinz
;
Fischer, Christine
;
Grziwa, Beate
;
Runz, Heiko
;
Nümann, Astrid
;
Shafqat, Naeem
;
Kavanagh, Kathryn L.
;
Hämmerling, Günter
;
Wanders, Ronald J. A.
;
Shield, Julian P. H.
;
Wendel, Udo
;
Stern, David
;
Nawroth, Peter
;
Hoffmann, Georg F.
;
Bartram, Claus R.
;
Arnold, Bernd
;
Bierhaus, Angelika
;
Oppermann, Udo
;
Steinbeisser, Herbert
;
Zschocke, Johannes
3-Hydroxyisobutyric Acid Dehydrogenase Deficiency: Expanding the Clinical Spectrum and Quantitation of D- and L-3-Hydroxyisobutyric Acid by an LC-MS/MS Method
(2022)
Sasarman, Florin
;
Ferdinandusse, Sacha
;
Sinasac, David S.
;
Fung, Ernest
;
Sparkes, Rebecca
;
Reeves, Melanie
;
Rombough, Catherine
;
Sass, Jörn Oliver
;
Voit, Renate
;
Ruiter, Jos P. N.
;
Koster, Janet
;
Waterham, Hans R.
;
Pasquini, Elisabetta
;
Donati, Maria A.
;
Marquardt, Thorsten
;
Wanders, Ronald J. A.
;
Al-Hertani, Walla
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