E-LIB Suche - Ergebnisse für: Janzen, Nils

1

Higher precision, first tier newborn screening for metachro..:

Bekri, Soumeya ; Bley, Annette ; Brown, Heather A....
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108436 , 2024

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

2

Newborn screening for aromatic l-amino acid decarboxylase d..:

Reischl-Hajiabadi, Anna T. ; Okun, Jürgen G. ; Kohlmüller, Dirk...
Molecular Genetics and Metabolism. 141 (2024) 3 - p. 108148 , 2024

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

3

Dried blood spot eluates are suitable for testing of SARS-C..:

Guttmann, Sarah ; Bunte, Sebastian ; Eschrig, Simon...
Biochemistry and Biophysics Reports. 34 (2023) - p. 101479 , 2023

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

4

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/..

5

High Throughput Newborn Screening for Sickle Cell Disease –..:

Hegert, Sebastian ; Janda, Joachim ; Bzdok, Jessica...
Klinische Pädiatrie. 235 (2023) 6 - p. 366-372 , 2023

Link: https://doi.org/10.1055/..

6

Development of analytics in newborn screening—from the Guth..:

Janzen, Nils ; Sander, Johannes
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz. 66 (2023) 11 - p. 1214-1221 , 2023

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

7

Newborn screening for metachromatic leukodystrophy (MLD): A..:

Gelb, Michael H. ; Wasserstein, Melissa ; Orsini, Joseph J....
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107111 , 2023

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

8

A MLD newborn screening pilot-study for metachromatic leuko..:

Oliva, Petra ; Mechtler, Thomas P. ; Schwarz, Markus...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107249 , 2023

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

9

Tissue Specific Distribution and Activation of Sapindaceae ..:

Sander, Johannes ; Terhardt, Michael ; Janzen, Nils...
Animals. 13 (2023) 15 - p. 2410 , 2023

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

10

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/..

11

Methionine Adenosyltransferase I/III Deficiency Detected by..:

Hübner, Vanessa ; Hannibal, Luciana ; Janzen, Nils..
Genes. 13 (2022) 7 - p. 1163 , 2022

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

12

Newborn screening for metachromatic leukodystrophy in north..:

Oliva, Petra ; Mechtler, Thomas ; Schwarz, Markus...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S91-S92 , 2022

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

13

Severe Inhibition of Long-Chain Acyl-CoA Enoylhydratase (EC..:

Sander, Johannes ; Terhardt, Michael ; Janzen, Nils
Frontiers in Veterinary Science. 8 (2021) - p. , 2021

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

14

L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric A..:

Christen, Matthias ; Janzen, Nils ; Fraser, Anne...
Genes. 12 (2021) 5 - p. 682 , 2021

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

15

A newborn screening approach to diagnose 3‐hydroxy‐3‐methyl..:

Václavík, Jan ; Mádrová, Lucie ; Kouřil, Štěpán...
JIMD Reports. 54 (2020) 1 - p. 79-86 , 2020

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