E-LIB Suche - Ergebnisse für: Haas, Dorothea

1

Neurological outcome in long‐chain hydroxy fatty acid oxida..:

Mütze, Ulrike ; Ottenberger, Alina ; Gleich, Florian...
Annals of Clinical and Translational Neurology. 11 (2024) 4 - p. 883-898 , 2024

Link: https://doi.org/10.1002/..

2

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/..

3

Empagliflozin for treating neutropenia and neutrophil dysfu..:

Grünert, Sarah C. ; Gautschi, Matthias ; Baker, Joshua...
Molecular Genetics and Metabolism. 142 (2024) 2 - p. 108486 , 2024

Link: https://doi.org/10.1016/..

4

Combined Newborn Screening Allows Comprehensive Identificat..:

Schnabel, Elena ; Kölker, Stefan ; Gleich, Florian...
Nutrients. 15 (2023) 15 - p. 3355 , 2023

Link: https://doi.org/10.3390/..

5

Generation of two human iPSC lines, HMGUi003-A and MRIi028-..:

Iuso, Arcangela ; Zhang, Fangfang ; Rusha, Ejona...
Stem Cell Research. 61 (2022) - p. 102773 , 2022

Link: https://doi.org/10.1016/..

6

Efficacy and safety of empagliflozin in glycogen storage di..:

Grünert, Sarah C. ; Derks, Terry G.J. ; Adrian, Katarina...
Genetics in Medicine. 24 (2022) 8 - p. 1781-1788 , 2022

Link: https://doi.org/10.1016/..

7

Sudden neonatal death in individuals with medium-chain acyl..:

Mütze, Ulrike ; Nennstiel, Uta ; Odenwald, Birgit...
European Journal of Pediatrics. 181 (2022) 6 - p. 2415-2422 , 2022

Link: https://doi.org/10.1007/..

8

Deep intronic variant in MVK as a cause for mevalonic acidu..:

Dvaladze, Anna ; Tavares, Erika ; Di Scipio, Matteo...
Clinical Genetics. 102 (2022) 6 - p. 524-529 , 2022

Link: https://doi.org/10.1111/..

9

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unra..:

Lim, Pei Jin ; Marfurt, Severin ; Lindert, Uschi...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

10

The spectrum of peripheral neuropathy in disorders of the m..:

Grünert, Sarah C. ; Eckenweiler, Matthias ; Haas, Dorothea...
Journal of Inherited Metabolic Disease. 44 (2021) 4 - p. 893-902 , 2021

Link: https://doi.org/10.1002/..

11

Differences of Phenylalanine Concentrations in Dried Blood ..:

Haas, Dorothea ; Hauke, Jana ; Schwarz, Kathrin V....
Metabolites. 11 (2021) 10 - p. 680 , 2021

Link: https://doi.org/10.3390/..

12

Impact of glycogen storage disease type I on adult daily li..:

Garbade, Sven F. ; Ederer, Viviane ; Burgard, Peter...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

13

Phenotypic diversity, disease progression, and pathogenicit..:

Brennenstuhl, Heiko ; Nashawi, Mohammed ; Schröter, Julian...
Journal of Inherited Metabolic Disease. 44 (2021) 5 - p. 1272-1287 , 2021

Link: https://doi.org/10.1002/..

14

Phenylalanine Effects on Brain Function in Adult Phenylketo..:

Pilotto, Andrea ; Zipser, Carl M. ; Leks, Edytha...
Neurology. 96 (2021) 3 - p. , 2021

Link: https://doi.org/10.1212/..

15

Health Outcomes of Infants with Vitamin B12 Deficiency Iden..:

Mütze, Ulrike ; Walter, Magdalena ; Keller, Mareike...
The Journal of Pediatrics. 235 (2021) - p. 42-48 , 2021

Link: https://doi.org/10.1016/..