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KETOplus - Ketonkörper: Mehr als nur Energieträger! (DE/MKW NRW/005-1703-0016)
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Fachbereich Angewandte Naturwissenschaften
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Institut für funktionale Gen-Analytik (IFGA)
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Inborn error of metabolism
(2)
3-hydroxyisobutyrate dehydrogenase
(1)
3-hydroxyisobutyric acid dehydrogenase deficiency
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3-hydroxyisobutyric aciduria
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ASPA
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Acylpeptide hydrolase
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Aminoacylase
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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
Screening for hypophosphatasia: does biochemistry lead the way?
(2021)
Held, Corinna Melanie
;
Guebelin, Anic
;
Krebs, Andreas
;
Sass, Jörn Oliver
;
Wurm, Michael
;
Lausch, Ekkehart
;
van der Werf-Grohmann, Natascha
;
Schwab, Karl Otfried
Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease
(2021)
Grünert, Sarah C.
;
Foster, William
;
Schumann, Anke
;
Lund, Allan
;
Pontes, Christina
;
Roloff, Sylvia
;
Weinhold, Natalie
;
Yue, Wyatt W.
;
AlAsmari, Ali
;
Obaid, Osama A.
;
Faqeih, Eissa Ali
;
Stübbe, Lisa
;
Yamamoto, Raina
;
Gemperle-Britschgi, Corinne
;
Walter, Melanie
;
Spiekerkötter, Ute
;
Mackinnon, Sabrina
;
Sass, Jörn Oliver
Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism
(2021)
Schulke, Daniel
;
Sass, Jörn Oliver
Severe retinal degeneration in a patient with Canavan disease
(2021)
Benson, Matthew D.
;
Plemel, David J. A.
;
Freund, Paul R.
;
Lewis, James R.
;
Sass, Jörn Oliver
;
Bähr, Luzy
;
Gemperle-Britschgi, Corinne
;
Ferreira, Patrick
;
MacDonald, Ian M.
d-Glycerate kinase deficiency in a neuropediatric patient
(2020)
Sass, Jörn Oliver
;
Behringer, Sidney
;
Fernando, Malkanthi
;
Cesaroni, Elisabetta
;
Cursio, Ida
;
Volpini, Alberto
;
Till, Claudia
Acylpeptide hydrolase (APEH) sequence variants with potential impact on the metabolism of the antiepileptic drug valproic acid
(2019)
Tsortouktzidis, Despina
;
Grundke, Kathleen
;
Till, Claudia
;
Korwitz-Reichelt, Anne
;
Sass, Jörn Oliver
From rodent heart to inborn errors of human metabolism
(2018)
Sass, Jörn Oliver
;
Uçar, Sema Kalkan
;
van Karnebeek, Clara D.M.
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