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Himmelreich, Nastassja
46
results:
Format
Online (46)
Mediatypes
Articles (Online) (27)
OpenAccess-fulltext (18)
Thesis (Online) (1)
Languages
german (3)
english (43)
Sorted by: Relevance
Sorted by: Year
?
1
Clinical and biochemical footprints of congenital disorders..:
Ng, Bobby G.
;
Freeze, Hudson H.
;
Himmelreich, Nastassja
..
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108476 , 2024
Link:
https://doi.org/10.1016/..
?
2
Significance of utilizing in silico structural analysis and..:
Himmelreich, Nastassja
;
Ramón-Maiques, Santiago
;
Navarrete, Rosa
...
Molecular Genetics and Metabolism. 142 (2024) 3 - p. 108514 , 2024
Link:
https://doi.org/10.1016/..
?
3
Does hyperphenylalaninemia induce brain glucose hypometabol..:
Trefz, Friedrich
;
Frauendienst-Egger, Georg
;
Dienel, Gerald
...
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108464 , 2024
Link:
https://doi.org/10.1016/..
?
4
Prevalence of DDC genotypes in patients with aromatic L-ami..:
Himmelreich, Nastassja
;
Bertoldi, Mariarita
;
Alfadhel, Majid
...
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107624 , 2023
Link:
https://doi.org/10.1016/..
?
5
Corrigendum to: Prevalence of DDC genotypes in patients wit..:
Himmelreich, Nastassja
;
Bertoldi, Mariarita
;
Alfadhel, Majid
...
Molecular Genetics and Metabolism. 139 (2023) 4 - p. 107647 , 2023
Link:
https://doi.org/10.1016/..
?
6
PREVALENCE OF VARIANTS AND GENOTYPES IN PATIENTS WITH L-AR..:
Himmelreich, Nastassja
;
Bertoldi, Mariarita
;
Bisello, Giovanni
...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107421 , 2023
Link:
https://doi.org/10.1016/..
?
7
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defi..:
Cannet, Claire
;
Bayat, Allan
;
Frauendienst-Egger, Georg
...
Molecules. 28 (2023) 13 - p. 4916 , 2023
Link:
https://doi.org/10.3390/..
?
8
Complex metabolic disharmony in PMM2-CDG paves the way to n..:
Himmelreich, Nastassja
;
Kikul, Frauke
;
Zdrazilova, Lucie
...
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107610 , 2023
Link:
https://doi.org/10.1016/..
?
9
REDUCED BIOTINIDASE ACTIVITY IN PATIENTS WITH CONGENITAL DI..:
Himmelreich, Nastassja
;
Köller, Clara
;
Blau, Nenad
...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107423 , 2023
Link:
https://doi.org/10.1016/..
?
10
PATHOGENICITY CLASSIFICATION OF PHENYLALANINE HYDROXYLASE (..:
Himmelreich, Nastassja
;
Navarrete, Rosa
;
Desviat, Lourdes Ruiz
...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107422 , 2023
Link:
https://doi.org/10.1016/..
?
11
Differenzierte Herangehensweise und Testung seltener geneti..:
Bachmann, Nadine
;
Auber, Bernd
;
Das, Anibh
...
Monatsschrift Kinderheilkunde. 172 (2023) 7 - p. 587-594 , 2023
Link:
https://doi.org/10.1007/..
?
12
Ex vivo proton spectroscopy (1H‐NMR) analysis of inborn err..:
Cannet, Claire
;
Frauendienst‐Egger, Georg
;
Freisinger, Peter
...
NMR in Biomedicine. 36 (2022) 4 - p. , 2022
Link:
https://doi.org/10.1002/..
?
13
Missense variant c.1460 T > C (p.L487P) enhances protein de..:
Himmelreich, Nastassja
;
Dimitrov, Bianca
;
Zielonka, Matthias
...
Molecular Genetics and Metabolism. 136 (2022) 4 - p. 274-281 , 2022
Link:
https://doi.org/10.1016/..
?
14
Spectrum of DDC variants causing aromatic l-amino acid deca..:
Himmelreich, Nastassja
;
Montioli, Riccardo
;
Garbade, Sven F.
...
Molecular Genetics and Metabolism. 137 (2022) 4 - p. 359-381 , 2022
Link:
https://doi.org/10.1016/..
?
15
THELOCUS-SPECIFIC DATABASE OF VARIANTS CAUSING AROMATIC AMI..:
Himmelreich, Nastassja
;
Montioli, Riccardo
;
Carducci, Carla
..
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 276 , 2022
Link:
https://doi.org/10.1016/..
1-15