E-LIB Suche - Ergebnisse für: Cozma, Claudia

1

Insights into the Value of Lyso-Gb1 as a Predictive Biomark..:

Curado, Filipa ; Rösner, Sabine ; Zielke, Susanne...
Diagnostics. 13 (2023) 17 - p. 2812 , 2023

2

Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment..:

Dinur, Tama ; Bauer, Peter ; Beetz, Christian...
International Journal of Molecular Sciences. 24 (2023) 4 - p. 3945 , 2023

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

3

The Bone Biomarker of Quantitative Chemical Shift Imaging i..:

Zimran, Ari ; Szer, Jeff ; Becker-Cohen, Michal...
Journal of Clinical Medicine. 12 (2023) 6 - p. 2220 , 2023

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

4

Neuronal progenitor cells-based metabolomics study reveals ..:

Rus, Corina-Marcela ; Polla, Daniel L. ; Di Bucchianico, Sebastiano...
Scientific Reports. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

5

At a glance: the largest Niemann-Pick type C1 cohort with 6..:

Guatibonza Moreno, Pilar ; Pardo, Luba M. ; Pereira, Catarina...
European Journal of Human Genetics. 31 (2023) 10 - p. 1108-1116 , 2023

Link: https://doi.org/10.1038/..

6

Contribution of lyso-Gb1 to treatment decisions in patients..:

Dinur, Tama ; Bauer, Peter ; Beetz, Christian...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107080 , 2023

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

7

Application of a dried blood spot based proteomic and genet..:

Iuraşcu, Marius‐Ionuţ ; Balla, Zsuzsanna ; Pereira, Catarina...
Clinical and Translational Allergy. 13 (2023) 11 - p. , 2023

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

8

Rapid home therapy infusion of velaglucerase alfa in naïve ..:

Becker‐Cohen, Michal ; Revel‐Vilk, Shoshana ; Frydman, Dafna...
Internal Medicine Journal. 54 (2023) 3 - p. 398-403 , 2023

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

9

Clinical and genetic characterization of a cohort of 97 CLN..:

Rus, Corina-Marcela ; Weissensteiner, Thomas ; Pereira, Catarina...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

10

Prodromal Parkinsonian features invariant carriers:

Becker-Cohen, Michal ; Dinur, Tama ; Katz, Ilana...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S22 , 2022

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

11

Defining the role of Lyso-Gb1 as a biomarker over 12 months..:

Curado, Filipa ; Grittner, Ulrike ; Skrahina, Volha...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S34 , 2022

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

12

An integrated multiomic approach as an excellent tool for t..:

Almeida, Ligia S. ; Pereira, Catarina ; Aanicai, Ruxandra...
European Journal of Human Genetics. 30 (2022) 9 - p. 1029-1035 , 2022

Link: https://doi.org/10.1038/..

13

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot ..:

Dinur, Tama ; Bauer, Peter ; Beetz, Christian...
International Journal of Molecular Sciences. 23 (2022) 3 - p. 1627 , 2022

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

14

A Comprehensive Assessment of Qualitative and Quantitative ..:

Becker-Cohen, Michal ; Zimran, Ari ; Dinur, Tama...
International Journal of Molecular Sciences. 23 (2022) 20 - p. 12211 , 2022

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

15

Gaucher disease diagnosis using lyso-Gb1 on dry blood spot ..:

Dinur, Tama ; Bauer, Peter ; Beetz, Christian...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S38-S39 , 2022

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