E-LIB Suche - Ergebnisse für: Gramer, Gwendolyn

1

Influence of Season, Storage Temperature and Time of Sample..:

Maier, Pia ; Jeyaweerasinkam, Sumathy ; Eberhard, Janina...
International Journal of Neonatal Screening. 10 (2024) 1 - p. 5 , 2024

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

2

Outcomes after newborn screening for propionic and methylma..:

Reischl‐Hajiabadi, Anna T. ; Schnabel, Elena ; Gleich, Florian...
Journal of Inherited Metabolic Disease. , 2024

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

3

New Cases of Maleylacetoacetate Isomerase Deficiency with D..:

Gramer, Gwendolyn ; Wortmann, Saskia B. ; Fang-Hoffmann, Junmin...
International Journal of Neonatal Screening. 10 (2024) 1 - p. 17 , 2024

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

4

Identification of potential interferents of methylmalonic a..:

Monostori, Péter ; Godejohann, Markus ; Janda, Joachim...
Clinical Biochemistry. 111 (2023) - p. 72-80 , 2023

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

5

Collaborative evaluation study on 18 candidate diseases for..:

Maier, Esther M. ; Mütze, Ulrike ; Janzen, Nils...
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1043-1062 , 2023

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

6

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/..

7

Long‐term anthropometric development of individuals with in..:

Mütze, Ulrike ; Garbade, Sven F. ; Gleich, Florian...
Journal of Inherited Metabolic Disease. 46 (2022) 1 - p. 15-27 , 2022

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

8

Neonatal screening for isovaleric aciduria: Reducing the in..:

Murko, Simona ; Aseman, Asra Dadkhah ; Reinhardt, Friederike...
JIMD Reports. 64 (2022) 1 - p. 114-120 , 2022

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

9

German newborn screening for Cystic fibrosis: Parental pers..:

Gapp, Simon ; Garbade, Sven F. ; Feyh, Patrik...
Pediatric Pulmonology. 58 (2022) 3 - p. 844-852 , 2022

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

10

Maternal Vitamin B12 Deficiency Detected by Newborn Screeni..:

Reischl-Hajiabadi, Anna T. ; Garbade, Sven F. ; Feyh, Patrik...
Nutrients. 14 (2022) 18 - p. 3767 , 2022

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

11

Second-tier strategies in newborn screening – potential and..:

Gramer, Gwendolyn ; Hoffmann, Georg F.
Medizinische Genetik. 34 (2022) 1 - p. 21-28 , 2022

Link: https://doi.org/10.1515/..

12

Final results of the southwest German pilot study on cystic..:

Sommerburg, Olaf ; Stahl, Mirjam ; Hämmerling, Susanne...
Journal of Cystic Fibrosis. 21 (2022) 3 - p. 422-433 , 2022

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

13

Long-term efficacy and safety of sapropterin in patients wh..:

Muntau, Ania C. ; Burlina, Alberto ; Eyskens, François...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

14

Maternal vitamin deficiency mimicking multiple acyl-CoA deh..:

Gramer, Gwendolyn ; Hoffmann, Georg F. ; Hennermann, Julia B.
Molecular Genetics and Metabolism Reports. 27 (2021) - p. 100738 , 2021

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

15

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/..