E-LIB Suche - Ergebnisse für: Glamuzina, Emma

1

Neuronal intranuclear inclusion disease in New Zealand: A n..:

Zhang, Tony ; Chancellor, Andrew ; Liem, Bernard...
Journal of the Neurological Sciences. 460 (2024) - p. 122987 , 2024

2

Further delineation of short-chain enoyl-CoA hydratase defi..:

Bernhardt, Isaac ; Frajman, Leah E. ; Ryder, Bryony...
Molecular Genetics and Metabolism. 142 (2024) 3 - p. 108508 , 2024

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

3

Two cases of infantile beriberi causing cardiorespiratory a..:

Coleman, Oliver ; Gilmour, Leeyan ; Smith, Rebecca...
Journal of Paediatrics and Child Health. 59 (2023) 3 - p. 565-566 , 2023

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

4

Severe neonatal onset neuroregression with paroxysmal dysto..:

Poquérusse, Jessie ; Nolan, Melinda ; Thorburn, David R....
JIMD Reports. 64 (2023) 3 - p. 223-232 , 2023

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

5

The management and clinical outcomes of pregnancies in wome..:

Stepien, Karolina M. ; Langendonk, Janneke G. ; Dao, Myriam...
Journal of Inherited Metabolic Disease. , 2023

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

6

Defining the phenotype of PGAP3-congenital disorder of glyc..:

Altassan, Ruqaiah ; Allers, Michael M. ; De Graef, Diederik...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107688 , 2023

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

7

Mitochondrial disease in New Zealand: a nationwide prevalen..:

Missen, Sarah ; Wilson, Callum ; Potter, Howard...
Internal Medicine Journal. 54 (2023) 3 - p. 388-397 , 2023

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

8

Craniofacial features of POLR3-related leukodystrophy cause..:

Mirchi, Amytice ; Guay, Simon-Pierre ; Tran, Luan T...
Journal of Medical Genetics. 60 (2023) 10 - p. 1026-1034 , 2023

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

9

Clinico‐radiological features, molecular spectrum, and iden..:

Scala, Marcello ; Wortmann, Saskia B. ; Kaya, Namik...
Human Mutation. 43 (2022) 3 - p. 403-419 , 2022

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

10

Genotype–phenotype correlations in CPT1A deficiency detecte..:

Bernhardt, Isaac ; Glamuzina, Emma ; Dowsett, Leah K....
JIMD Reports. 63 (2022) 4 - p. 322-329 , 2022

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

11

The risk of classical galactosaemia in newborns with border..:

Bernhardt, Isaac ; Glamuzina, Emma ; Ryder, Bryony...
JIMD Reports. 64 (2022) 2 - p. 180-186 , 2022

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

12

New insights into carnitine‐acylcarnitine translocase defic..:

Ryder, Bryony ; Inbar‐Feigenberg, Michal ; Glamuzina, Emma...
Journal of Inherited Metabolic Disease. 44 (2021) 4 - p. 903-915 , 2021

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

13

Plasma ammonia concentrations in extremely low birthweight ..:

Cormack, Barbara E. ; Jiang, Yannan ; Harding, Jane E....
Pediatric Research. 88 (2020) 2 - p. 250-256 , 2020

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

14

Glycogenin is Dispensable for Glycogen Synthesis in Human M..:

Visuttijai, Kittichate ; Hedberg-Oldfors, Carola ; Thomsen, Christer...
The Journal of Clinical Endocrinology & Metabolism. 105 (2019) 2 - p. 557-566 , 2019

Link: https://doi.org/10.1210/..

15

Biochemical signatures mimicking multiple carboxylase defic..:

Larson, Austin A. ; Balasubramaniam, Shanti ; Christodoulou, John...
Mitochondrion. 44 (2019) - p. 58-64 , 2019

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