E-LIB Suche - Ergebnisse für: Santer, René

1

Gain-of-function variants in CLCN7 cause hypopigmentation a..:

Polovitskaya, Maya M. ; Rana, Tanushka ; Ullrich, Kurt...
Journal of Biological Chemistry. 300 (2024) 7 - p. 107437 , 2024

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

2

Neurological outcome in long‐chain hydroxy fatty acid oxida..:

Mütze, Ulrike ; Ottenberger, Alina ; Gleich, Florian...
Annals of Clinical and Translational Neurology. 11 (2024) 4 - p. 883-898 , 2024

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

3

Repurposing SGLT2 inhibitors: Treatment of renal proximal t..:

Overduin, Ruben J. ; Grünert, Sarah C. ; Besouw, Martine T. P....
Journal of Inherited Metabolic Disease. , 2024

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

4

Deoxyguanosine kinase deficiency: natural history and liver..:

Manzoni, Eleonora ; Carli, Sara ; Gaignard, Pauline...
Brain Communications. 6 (2024) 3 - p. , 2024

Link: https://doi.org/10.1093/..

5

Quantification of N-acetyl-l-aspartate in dried blood spots..:

Posern, Christian ; Dreyer, Benjamin ; Maier, Sarah L....
Molecular Genetics and Metabolism. 142 (2024) 2 - p. 108489 , 2024

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

6

Liver transplantation in glycogen storage disease type Ib: ..:

Murko, Simona ; Peschka, Manuela ; Tsiakas, Konstantinos...
Molecular Genetics and Metabolism Reports. 35 (2023) - p. 100977 , 2023

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

7

Expanding the phenotypic and biochemical spectrum of NDUFAF..:

van der Ven, Amelie T. ; Cabrera-Orefice, Alfredo ; Wente, Isabell...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107675 , 2023

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

8

CNS Manifestations in Mucolipidosis Type II—A Retrospective..:

Ammer, Luise Sophie ; Täuber, Karolin ; Perez, Anna...
Journal of Clinical Medicine. 12 (2023) 12 - p. 4114 , 2023

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

9

Dominant-negative effect of lactase missense variants: hete..:

Wanes, Dalanda ; Stellbrinck, Tammy ; Marten, Lara M..
Gut. , 2023

Link: https://doi.org/10.1136/..

10

Isovaleric aciduria identified by newborn screening: Strate..:

Mütze, Ulrike ; Henze, Lucy ; Schröter, Julian...
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1063-1077 , 2023

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

11

Genetic landscape of pediatric acute liver failure of indet..:

Lenz, Dominic ; Schlieben, Lea D ; Shimura, Masaru...
https://boris.unibe.ch/189117/. , 2023

Link: https://boris.unibe.ch/1..

12

CNS Manifestations in Mucolipidosis Type II—A Retrospective..:

Luise Sophie Ammer ; Karolin Täuber ; Anna Perez...
Clinical Neurology. , 2023

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

13

CNS Manifestations in Mucolipidosis Type II—A Retrospective..:

Luise Sophie Ammer ; Karolin Täuber ; Anna Perez...
https://www.mdpi.com/2077-0383/12/12/4114. , 2023

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

14

Genetic landscape of pediatric acute liver failure of indet..:

Lenz, Dominic ; Schlieben, Lea ; Shimura, Masaru...
info:eu-repo/semantics/altIdentifier/doi/10.1097/HEP.0000000000000684. , 2023

Link: https://hal.inrae.fr/hal..

15

The motor system is exceptionally vulnerable to absence of ..:

Park, Julien H ; Nordström, Ulrika ; Tsiakas, Konstantinos...
Brain Communications, 2023, 5:1,. , 2023

Link: http://urn.kb.se/resolve..