E-LIB Suche - Ergebnisse für: Park, Julien H

1

Treatment of AICA ribosiduria by suppression of de novo pur..:

Park, Julien H. ; Och, Ulrike ; Braun, Tim...
Molecular Genetics and Metabolism. 141 (2024) 3 - p. 108124 , 2024

2

Clinical and molecular analysis of a novel variant in heme ..:

Berendes, Lea-Sophie ; Westhoff, Petra Schulze ; Wittkowski, Helmut...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101038 , 2024

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

3

Pathogenic Relationships in Cystic Fibrosis and Renal Disea..:

Kunzelmann, Karl ; Ousingsawat, Jiraporn ; Kraus, Andre...
International Journal of Molecular Sciences. 24 (2023) 17 - p. 13278 , 2023

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

4

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

Park, Julien H ; Nordström, Ulrika ; Tsiakas, Konstantinos...
Brain Communications. 5 (2022) 1 - p. , 2022

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

5

Mannose supplementation in PMM2-CDG:

Taday, Roman ; Park, Julien H. ; Grüneberg, Marianne...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

6

Infantile SOD1 deficiency syndrome caused by a homozygous S..:

Ezer, Shlomit ; Daana, Muhannad ; Park, Julien H...
Brain. 145 (2021) 3 - p. 872-878 , 2021

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

7

Treatment Options in Congenital Disorders of Glycosylation:

Park, Julien H. ; Marquardt, Thorsten
Frontiers in Genetics. 12 (2021) - p. , 2021

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

8

N‐glycome analysis detects dysglycosylation missed by conve..:

Park, Julien H. ; Mealer, Robert G. ; Elias, Abdallah F....
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1370-1381 , 2020

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

9

The schizophrenia risk locus in SLC39A8 alters brain metal ..:

Mealer, Robert G. ; Jenkins, Bruce G. ; Chen, Chia-Yen...
Scientific Reports. 10 (2020) 1 - p. , 2020

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

10

L-Fucose treatment of FUT8-CDG:

Park, Julien H. ; Reunert, Janine ; He, Miao...
Molecular Genetics and Metabolism Reports. 25 (2020) - p. 100680 , 2020

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

11

Reply: Not every excessive startle is hyperekplexia, the cu..:

Park, Julien H ; Elpers, Christiane ; Marquardt, Thorsten
Brain. 143 (2020) 2 - p. e12-e12 , 2020

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

12

Cystinosis: Therapy adherence and metabolic monitoring in p..:

Linden, Simone ; Klank, Sabrina ; Harms, Erik...
Molecular Genetics and Metabolism Reports. 24 (2020) - p. 100620 , 2020

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

13

Transferrin glycosylation analysis from dried blood spot ca..:

Wolking, Anna B. ; Park, Julien H. ; Grüneberg, Marianne...
Journal of Chromatography B. 1106-1107 (2019) - p. 64-70 , 2019

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

14

SOD1 deficiency: a novel syndrome distinct from amyotrophic..:

Park, Julien H ; Elpers, Christiane ; Reunert, Janine...
Brain. 142 (2019) 8 - p. 2230-2237 , 2019

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

15

SLC39A8 deficiency: biochemical correction and major clinic..:

Park, Julien H. ; Hogrebe, Max ; Fobker, Manfred...
Genetics in Medicine. 20 (2018) 2 - p. 259-268 , 2018

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