E-LIB Suche - Ergebnisse für: Mundy, Helen

1

Long-term use of investigational β-Hydroxybutyrate salts in..:

Morris, Andrew A.M. ; Cuenoud, Bernard ; Delerive, Philippe..
Molecular Genetics and Metabolism Reports. 40 (2024) - p. 101104 , 2024

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

2

Treatment recommendations for glycogen storage disease type..:

Grünert, Sarah C. ; Derks, Terry G.J. ; Mundy, Helen...
Molecular Genetics and Metabolism. 141 (2024) 3 - p. 108144 , 2024

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

3

Empagliflozin for treating neutropenia and neutrophil dysfu..:

Grünert, Sarah C. ; Gautschi, Matthias ; Baker, Joshua...
Molecular Genetics and Metabolism. 142 (2024) 2 - p. 108486 , 2024

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

4

Liver transplantation in ornithine transcarbamylase deficie..:

Seker Yilmaz, Berna ; Baruteau, Julien ; Chakrapani, Anupam...
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101020 , 2023

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

5

Natural history of epilepsy in argininosuccinic aciduria pr..:

Elkhateeb, Nour ; Olivieri, Giorgia ; Siri, Barbara...
Epilepsia. 64 (2023) 6 - p. 1612-1626 , 2023

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

6

The incidence of movement disorder increases with age and c..:

Gurung, Sonam ; Karamched, Saketh ; Perocheau, Dany...
Journal of Inherited Metabolic Disease. , 2023

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

7

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/..

8

Liver histology in children with glycogen storage disorders..:

Degrassi, Irene ; Deheragoda, Maesha ; Creegen, David...
Digestive and Liver Disease. 53 (2021) 1 - p. 86-93 , 2021

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

9

The natural history of glycogen storage disease type Ib in ..:

Halligan, Rebecca ; White, Fiona J. ; Schwahn, Bernd...
JIMD Reports. 59 (2021) 1 - p. 52-59 , 2021

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

10

MT-ND5 Mutation Exhibits Highly Variable Neurological Manif..:

Ng, Yi Shiau ; Lax, Nichola Z. ; Maddison, Paul...
eBioMedicine. 30 (2018) - p. 86-93 , 2018

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

11

Treatment outcome of twenty-two patients with guanidinoacet..:

Khaikin, Yannay ; Sidky, Sarah ; Abdenur, Jose...
European Journal of Paediatric Neurology. 22 (2018) 3 - p. 369-379 , 2018

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

12

Safety issues associated with dietary management in patient..:

Steunenberg, Thomas A.H. ; Peeks, Fabian ; Hoogeveen, Irene J....
Molecular Genetics and Metabolism. 125 (2018) 1-2 - p. 79-85 , 2018

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

13

Reversible Cerebral White Matter Abnormalities in Homocysti..:

, In: JIMD Reports; JIMD Reports, Volume 44,

Ismayilova, Naila ; MacKinnon, Andrew D. ; Mundy, Helen. - p. 115-119 , 2018

Link: https://doi.org/10.1007/..

14

Healthcare resource use and costs of managing children and ..:

Guest, Julian F. ; Ingram, Andy ; Ayoub, Nadia...
PLOS ONE. 13 (2018) 2 - p. e0191945 , 2018

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

15

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Dis..:

Taylor, Rachel L. ; Handley, Mark T. ; Waller, Sarah...
Investigative Opthalmology & Visual Science. 58 (2017) 1 - p. 594 , 2017

Link: https://doi.org/10.1167/..