E-LIB Suche - Ergebnisse für: Eichler, Sabrina A.

1

Identification of PKD1 and PKD2 gene variants in a cohort o..:

Pandita, Shewata ; Ramachandran, Vijaya ; Balakrishnan, Prahlad...
Journal of Human Genetics. 64 (2019) 5 - p. 409-419 , 2019

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

2

Glucosylsphingosine concentration is the most reliable resp..:

Arkadir, David ; Dinur, Tama ; Revel-Vilk, Shoshana...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S20 , 2018

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

3

Glucosylsphingosine is a reliable response biomarker in Gau..:

Arkadir, David ; Dinur, Tama ; Revel‐Vilk, Shoshana...
American Journal of Hematology. 93 (2018) 6 - p. , 2018

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

4

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/..

5

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/..

6

Ethylmalonic encephalopathy masquerading as malabsorption s..:

Satapathy, Amit Kumar ; Correa, Alec ; Kabra, Madhulika...
Meta Gene. 13 (2017) - p. 115-118 , 2017

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

7

C26-ceramide is a new and sensitive biomarker for Farber di..:

Cozma, Claudia ; Iurascu, Marius ; Zielke, Susanne...
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S38 , 2017

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

8

Glucosylsphingosine Causes Hematological and Visceral Chang..:

Lukas, Jan ; Cozma, Claudia ; Yang, Fan...
International Journal of Molecular Sciences. 18 (2017) 10 - p. 2192 , 2017

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

9

Identification of a Novel GLA Gene Mutation, p.Ile239Met, i..:

Csányi, Beáta ; Hategan, Lidia ; Nagy, Viktória...
International Heart Journal. 58 (2017) 3 - p. 454-458 , 2017

Link: https://doi.org/10.1536/..

10

Reductions in glucosylsphingosine (lyso-Gb1) in treatment-n..:

Elstein, Deborah ; Mellgard, Björn ; Dinh, Quinn...
Molecular Genetics and Metabolism. 122 (2017) 1-2 - p. 113-120 , 2017

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

11

Cardiac Troponin I: A Valuable Biomarker Indicating the Car..:

Tanislav, Christian ; Guenduez, Dursun ; Liebetrau, Christoph...
PLOS ONE. 11 (2016) 6 - p. e0157640 , 2016

Link: https://doi.org/10.1371/..

12

Novel PORCN mutation in a severe case of Focal Dermal Hypop..:

Ramirez‐Botero, Andres Felipe ; Eichler, Sabrina ; Rolfs, Arndt.
Congenital Anomalies. 56 (2016) 3 - p. 138-140 , 2016

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

13

Functional and Clinical Consequences of Novel α-Galactosida..:

Lukas, Jan ; Scalia, Simone ; Eichler, Sabrina...
Human Mutation. 37 (2016) 7 - p. 710-710 , 2016

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

14

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on..:

Cozma, Claudia ; Eichler, Sabrina ; Wittmann, Gyula...
PLOS ONE. 10 (2015) 7 - p. e0131228 , 2015

Link: https://doi.org/10.1371/..

15

Functional and Clinical Consequences of Novel α-Galactosida..:

Lukas, Jan ; Scalia, Simone ; Eichler, Sabrina...
Human Mutation. 37 (2015) 1 - p. 43-51 , 2015

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