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- Journal Article1,299
- Kölker, Stefan 57
- , 55
- Dionisi‐Vici, Carlo 35
- Morava, Eva 34
- Baumgartner, Matthias R. 33
- Hoffmann, Georg F. 33
- Rahman, Shamima 33
- Burgard, Peter 30
- Häberle, Johannes 27
- Wanders, Ronald J. A. 27
- 616.39042 1,299
- Metabolism -- Disorders -- Periodicals 1,299
- Metabolism, Inborn errors of -- Periodicals 1,299
- Pompe disease -- Enzyme replacement therapy -- Juvenile -- Systematic review 2
- Urea cycle Disorders -- international registry and database -- diagnostic methods 2
- cognitive outcome -- ornithine transcarbamylase deficiency -- urea cycle disorders 2
- epileptic encephalopathy -- exome sequencing -- GPI -- IGD -- PIGQ -- rare diseases 2
- 1, 5‐anhydroglucitol‐6‐phosphate -- D‐2‐hydroxyglutaric aciduria -- enzyme promiscuity -- G6PC3 -- G6PT -- galactose -- inborn errors of metabolism -- metabolite repair -- NADP(H)X -- neutropenia -- PGM1 -- SGLT2 inhibitor -- UGP2 1
- 13CO2 -- galactose oxidation -- inborn error of metabolism -- isotope ratio mass spectrometry 1
- 2, 6‐diisopropylphenol -- bile acid profiling -- cerebrotendinous xanthomatosis -- CTX -- CYP27A1 -- cytochrome P450 27A1 -- propofol 1