E-LIB Suche - Ergebnisse für: Iurascu, Marius I.

1

Ganglioside quantification in dried blood spots: A potentia..:

Fischer, Steffen ; Iurascu, Marius I. ; Demuth, Laura.
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107828 , 2024

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

2

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/..

3

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/..

4

Two-tier screening approach for the identification of hered..:

Cozma, Claudia ; Iurascu, Marius I. ; Skrahina, Volha..
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S43-S44 , 2020

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

5

Successful application of genome sequencing in a diagnostic..:

Bertoli-Avella, Aida M. ; Beetz, Christian ; Ameziane, Najim...
European Journal of Human Genetics. 29 (2020) 1 - p. 141-153 , 2020

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

6

Hyaline fibromatosis syndrome: Genetic, clinical and bioche..:

Cozma, Claudia ; Hovakymian, Marina ; Iurascu, Marius I....
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S43 , 2020

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

7

Genetic, clinical and biochemical characterization of a lar..:

Cozma, Claudia ; Hovakimyan, Marina ; Iurașcu, Marius-Ionuț...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

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

8

Biochemical and genetic characteristics of the largest worl..:

Cozma, Claudia ; Iurascu, Marius I. ; Oprea, Gabriela...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S34 , 2018

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

9

Quantification of glucosylshingosine (lyso-Gb1) for the dia..:

Cozma, Claudia ; Couchon, Elizabeth Couchon ; Giese, Anne-Katrin..
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S35 , 2018

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

10

Glucosylsphingosine concentration in the blood of Gaucher p..:

Cozma, Claudia ; Zielke, Susanne ; Iurascu, Marius..
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S35 , 2018

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

11

Antibody Epitope of Human α‐Galactosidase A Revealed by Aff..:

Kukacka, Zdenek ; Iurascu, Marius ; Lupu, Loredana...
ChemMedChem. 13 (2018) 9 - p. 909-915 , 2018

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

12

Screening for biomarkers of Farber disease using C26 using ..:

Rolfs, Arndt ; Iurascu, Marius ; Hovakimyan, Marina..
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S124 , 2018

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

13

Lyso-SM-509 as highly sensitive biomarker for Niemann-Pick ..:

Cozma, Claudia ; Iurascu, Marius I. ; Oprea, Gabriela...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S34 , 2018

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

14

C26-Ceramide as highly sensitive biomarker for the diagnosi..:

Cozma, Claudia ; Iurașcu, Marius-Ionuț ; Eichler, Sabrina...
Scientific Reports. 7 (2017) 1 - p. , 2017

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

15

Biochemical and genetic data in a large, worldwide Fabry co..:

Boettcher, Tobias ; Cozma, Claudia ; Iurascu, Marius...
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S28 , 2017

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