E-LIB Suche - Ergebnisse für: Ballhausen, Diana

1

De novo variants in RNF213 are associated with a clinical s..:

Brunet, Theresa ; Zott, Benedikt ; Lieftüchter, Victoria...
Genetics in Medicine. 26 (2024) 2 - p. 101013 , 2024

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

2

Heterozygous variants in CTR9, which encodes a major compon..:

Meuwissen, Marije ; Verstraeten, Aline ; Ranza, Emmanuelle...
Genetics in Medicine. 24 (2022) 7 - p. 1583-1591 , 2022

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

3

Postauthorization safety study of betaine anhydrous:

Mütze, Ulrike ; Gleich, Florian ; Garbade, Sven F....
Journal of Inherited Metabolic Disease. 45 (2022) 4 - p. 719-733 , 2022

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

4

Recommendations for diagnosing and managing individuals wit..:

Boy, Nikolas ; Mühlhausen, Chris ; Maier, Esther M....
Journal of Inherited Metabolic Disease. 46 (2022) 3 - p. 482-519 , 2022

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

5

Efficacy and safety of empagliflozin in glycogen storage di..:

Grünert, Sarah C. ; Derks, Terry G.J. ; Adrian, Katarina...
Genetics in Medicine. 24 (2022) 8 - p. 1781-1788 , 2022

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

6

A knock-in rat model unravels acute and chronic renal toxic..:

Gonzalez Melo, Mary ; Fontana, Andrea Orlando ; Viertl, David...
Molecular Genetics and Metabolism. 134 (2021) 4 - p. 287-300 , 2021

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

7

Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlung..:

Hahn, Andreas ; Lampe, Christina ; Boentert, Matthias...
Fortschritte der Neurologie · Psychiatrie. , 2021

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

8

Guidelines for the diagnosis and management of methylmaloni..:

Forny, Patrick ; Hörster, Friederike ; Ballhausen, Diana...
Journal of Inherited Metabolic Disease. 44 (2021) 3 - p. 566-592 , 2021

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

9

The first knock-in rat model for glutaric aciduria type I a..:

Gonzalez Melo, Mary ; Remacle, Noémie ; Cudré-Cung, Hong-Phuc...
Molecular Genetics and Metabolism. 133 (2021) 2 - p. 157-181 , 2021

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

10

The fate of orally administered sialic acid: First insights..:

Tran, Christel ; Turolla, Licia ; Ballhausen, Diana...
Molecular Genetics and Metabolism Reports. 28 (2021) - p. 100777 , 2021

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

11

The impact of disease severity on the psychological well-be..:

Dimitrova, Nevena ; Glaus, Jennifer ; Urben, Sébastien...
Molecular Genetics and Metabolism Reports. 29 (2021) - p. 100795 , 2021

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

12

Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlung..:

Hahn, Andreas ; Lampe, Christina ; Boentert, Matthias...
Fortschritte der Neurologie · Psychiatrie. 89 (2021) 12 - p. 630-636 , 2021

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

13

Expanding the clinical and genetic spectrum of CAD deficien..:

Rymen, Daisy ; Lindhout, Martijn ; Spanou, Maria...
Genetics in Medicine. 22 (2020) 10 - p. 1589-1597 , 2020

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

14

Severe Distal Motor Involvement in a Non-compliant Adult Wi..:

Van Winckel, Géraldine ; Ballhausen, Diana ; Wolf, Barry...
Frontiers in Neurology. 11 (2020) - p. , 2020

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

15

Phenotype, treatment practice and outcome in the cobalamin‐..:

Huemer, Martina ; Diodato, Daria ; Martinelli, Diego...
Journal of Inherited Metabolic Disease. 42 (2019) 2 - p. 333-352 , 2019

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