Suchergebnisse - "Trefz, Friedrich"

PubPharm (134)

1

Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients

enthalten in: Molecular genetics and metabolism | 2024

von Trefz, F. | Frauendienst-Egger, G. | Dienel, G. | +10

2

Efficacy and safety of sapropterin before and during pregnancy : Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries

enthalten in: Journal of inherited metabolic disease | 2024

von Feillet, F. | Ficicioglu, C. | Lagler, F. | +12

3

Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance : Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis

enthalten in: Molecules (Basel, Switzerland) | 2023

von Cannet, C. | Bayat, A. | Frauendienst-Egger, G. | +8

4

Ex vivo proton spectroscopy (1 H-NMR) analysis of inborn errors of metabolism : Automatic and computer-assisted analyses

enthalten in: NMR in biomedicine | 2023

von Cannet, C. | Frauendienst-Egger, G. | Freisinger, P. | +8

5

Ex vivo proton spectroscopy (1 H‐NMR) analysis of inborn errors of metabolism : Automatic and computer‐assisted analyses

enthalten in: NMR in Biomedicine | 2023

von Cannet, C. | Frauendienst‐Egger, G. | Freisinger, P. | +8

6

Caring for Ukrainian refugee children with acute and chronic diseases

enthalten in: Lancet (London, England) | 2022

von Giżewska, M. | van Wegberg, A. | Maillot, F. | +2

7

Caring for Ukrainian refugee children with acute and chronic diseases

enthalten in: The lancet | April 11, 2022

von Giżewska, M. | van Wegberg, A. | Maillot, F. | +2

8

Undiagnosed Phenylketonuria Can Exist Everywhere : Results From an International Survey

enthalten in: The Journal of pediatrics | 2021

von van Wegberg, A. | Trefz, F. | Gizewska, M. | +106

9

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

enthalten in: Orphanet journal of rare diseases | 2021

von Saffari, A. | Cannet, C. | Blaschek, A. | +17

10

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

enthalten in: Orphanet journal of rare diseases | 2021

von Saffari, A. | Cannet, C. | Blaschek, A. | +17

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