| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders
|
Makris, Georgios
|
|
|
183 |
C |
p. 89-99
|
artikel
|
| 2 |
Enzyme dysfunction at atomic resolution: Disease-associated variants of human phosphoglucomutase-1
|
Beamer, Lesa J.
|
|
|
183 |
C |
p. 44-48
|
artikel
|
| 3 |
Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism
|
Schulke, Daniel
|
|
|
183 |
C |
p. 30-34
|
artikel
|
| 4 |
Identification of small molecule allosteric modulators of 5,10-methylenetetrahydrofolate reductase (MTHFR) by targeting its unique regulatory domain
|
Bezerra, Gustavo A.
|
|
|
183 |
C |
p. 100-107
|
artikel
|
| 5 |
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function
|
Korasick, David A.
|
|
|
183 |
C |
p. 49-54
|
artikel
|
| 6 |
Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies
|
Ghatge, Mohini S.
|
|
|
183 |
C |
p. 18-29
|
artikel
|
| 7 |
Inside front cover-EDB
|
|
|
|
183 |
C |
p. IFC
|
artikel
|
| 8 |
Levalbuterol lowers the feedback inhibition by dopamine and delays misfolding and aggregation in tyrosine hydroxylase
|
Flydal, Marte I.
|
|
|
183 |
C |
p. 126-132
|
artikel
|
| 9 |
Manipulation of a cation-π sandwich reveals conformational flexibility in phenylalanine hydroxylase
|
Arturo, Emilia C.
|
|
|
183 |
C |
p. 63-77
|
artikel
|
| 10 |
Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase
|
Sokolovskaya, Olga M.
|
|
|
183 |
C |
p. 35-43
|
artikel
|
| 11 |
Prolidase – A protein with many faces
|
Wilk, Piotr
|
|
|
183 |
C |
p. 3-12
|
artikel
|
| 12 |
Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency
|
Pavlu-Pereira, Hana
|
|
|
183 |
C |
p. 78-88
|
artikel
|
| 13 |
Structural biochemistry coming of age in the study of genetic metabolic disorders
|
Yue, Wyatt W.
|
|
|
183 |
C |
p. 1-2
|
artikel
|
| 14 |
Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease
|
Grünert, Sarah C.
|
|
|
183 |
C |
p. 55-62
|
artikel
|
| 15 |
The structural and molecular biology of type IV galactosemia
|
Banford, Samantha
|
|
|
183 |
C |
p. 13-17
|
artikel
|
| 16 |
Thiolatocobalamins repair the activity of pathogenic variants of the human cobalamin processing enzyme CblC
|
Wingert, Victoria
|
|
|
183 |
C |
p. 108-125
|
artikel
|
Tijdschrift beschrijving