E-LIB Suche - Ergebnisse für: Himmelreich, Nastassja

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

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

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/..

14

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/..

15

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/..