E-LIB Suche - Ergebnisse für: Knerr, Ina

1

Brain function in classic galactosemia, a galactosemia netw..:

Panis, Bianca ; Vos, E. Naomi ; Barić, Ivo...
Frontiers in Genetics. 15 (2024) - p. , 2024

2

Consensus guidelines for the diagnosis and management of su..:

Tokatly Latzer, Itay ; Bertoldi, Mariarita ; Blau, Nenad...
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108363 , 2024

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

3

CERT1 mutations perturb human development by disrupting sph..:

Gehin, Charlotte ; Lone, Museer A. ; Lee, Winston...
Journal of Clinical Investigation. 133 (2023) 10 - p. , 2023

Link: https://doi.org/10.1172/..

4

Assessment of Dietary Intake of Iodine and Risk of Iodine D..:

Milner, Dearbhla ; Boyle, Fiona ; McNulty, Jenny.
Nutrients. 15 (2023) 2 - p. 407 , 2023

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

5

A Retrospective Chart Review and Infant Feeding Survey in t..:

Rice, Jane ; McNulty, Jenny ; O'Shea, Meabh..
Nutrients. 15 (2023) 15 - p. 3380 , 2023

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

6

Ornithine transcarbamylase deficiency: A diagnostic odyssey:

Knerr, Ina ; Cassiman, David
Journal of Inherited Metabolic Disease. 45 (2022) 4 - p. 661-662 , 2022

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

7

Autonomic instability, arrhythmia and visual impairment in ..:

Howard, Caoimhe ; Dev‐Borman, Arundhati ; Stokes, John...
JIMD Reports. 64 (2022) 2 - p. 150-155 , 2022

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

8

A multinational study of acute and long‐term outcomes of Ty..:

Katler, Quinton S. ; Stepien, Karolina M. ; Paull, Nathan...
Journal of Inherited Metabolic Disease. 45 (2022) 6 - p. 1106-1117 , 2022

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

9

Secondary Hyperparathyroidism in Children with Mucolipidosi..:

Boruah, Ritma ; Monavari, Ahmad Ardeshir ; Conlon, Tracey...
Journal of Clinical Medicine. 11 (2022) 5 - p. 1366 , 2022

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

10

Translating principles of precision medicine into speech-la..:

Peter, Beate ; Davis, Jennifer ; Finestack, Lizbeth...
Human Genetics and Genomics Advances. 3 (2022) 3 - p. 100119 , 2022

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

11

Glutaric aciduria type 1: Diagnosis, clinical features and ..:

Healy, Lydia ; O'Shea, Meabh ; McNulty, Jennifer...
JIMD Reports. 63 (2022) 4 - p. 379-387 , 2022

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

12

Biochemical testing for inborn errors of metabolism: experi..:

Dunne, Esme ; O'Reilly, Daniel ; Murphy, Claire A....
European Journal of Pediatrics. 181 (2022) 10 - p. 3725-3732 , 2022

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

13

Galactokinase deficiency: lessons from the GalNet registry:

Rubio-Gozalbo, M. Estela ; Derks, Britt ; Das, Anibh Martin...
Genetics in Medicine. 23 (2021) 1 - p. 202-210 , 2021

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

14

Low excretor glutaric aciduria type 1 of insidious onset wi..:

Foran, Jason ; Moore, Michael ; Crushell, Ellen..
JIMD Reports. 58 (2020) 1 - p. 12-20 , 2020

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

15

Maple syrup urine disease: Clinical outcomes, metabolic con..:

O'Reilly, Daniel ; Crushell, Ellen ; Hughes, Joanne...
Journal of Inherited Metabolic Disease. 44 (2020) 3 - p. 639-655 , 2020

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