E-LIB Suche - Ergebnisse für: Raiman, Julian A.J.

1

Long-term administration of intravenous Trappsol® Cyclo™ (H..:

Sharma, Reena ; Hastings, Caroline ; Staretz-Chacham, Orna...
Molecular Genetics and Metabolism Reports. 36 (2023) - p. 100988 , 2023

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

2

Defining mitochondrial protein functions through deep multi..:

Rensvold, Jarred W. ; Shishkova, Evgenia ; Sverchkov, Yuriy...
Nature. 606 (2022) 7913 - p. 382-388 , 2022

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

3

Fifteen years of the Hunter Outcome Survey (HOS): Real-worl..:

Muenzer, Joseph ; Scarpa, Maurizio ; Tylki-Szymańska, Anna...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S86 , 2022

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

4

Efficacy of early haematopoietic stem cell transplantation ..:

Sreekantam, Srividya ; Smith, Laura ; Stewart, Catherine...
Molecular Genetics and Metabolism Reports. 32 (2022) - p. 100881 , 2022

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

5

Quantitative brain MRI morphology in severe and attenuated ..:

Kovac, Victor ; Shapiro, Elsa G. ; Rudser, Kyle D....
Molecular Genetics and Metabolism. 135 (2022) 2 - p. 122-132 , 2022

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

6

Findings from the Morquio A Registry Study (MARS) after 6 y..:

Mitchell, John J. ; Burton, Barbara K. ; Bober, Michael B....
Molecular Genetics and Metabolism. 137 (2022) 1-2 - p. 164-172 , 2022

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

7

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Ph..:

Magrinelli, Francesca ; Cali, Elisa ; Braga, Vinícius Lopes...
Movement Disorders Clinical Practice. 9 (2022) 2 - p. 218-228 , 2022

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

8

Quantitative brain MRI morphology in severe and attenuated ..:

Nestrasil, Igor ; Kovac, Victor ; Shapiro, Elsa G....
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S88 , 2022

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

9

Update on safety and efficacy results for phase I/II trial ..:

Raiman, Julian A.J. ; Sharma, Reena ; Paucar, Martin...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S90 , 2021

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

10

A Case Series on Genotype and Outcome of Liver Transplantat..:

Modin, Line ; Ng, Vicky ; Gissen, Paul...
Children. 8 (2021) 9 - p. 819 , 2021

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

11

Ultrasound findings of finger, wrist and knee joints in Muc..:

Roth, Johannes ; Inbar-Feigenberg, Michal ; Raiman, Julian...
Molecular Genetics and Metabolism. 133 (2021) 3 - p. 289-296 , 2021

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

12

Outcomes of patients with cobalamin C deficiency: A single ..:

Bourque, Danielle K. ; Mellin‐Sanchez, Lizbeth E. ; Bullivant, Garrett...
JIMD Reports. 57 (2020) 1 - p. 102-114 , 2020

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

13

An uncommon cause of early infantile liver disease and rais..:

Sreekantam, Srividya ; Rizvi, Hina ; Brown, Rachel...
JIMD Reports. 54 (2020) 1 - p. 22-24 , 2020

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

14

Attention and corpus callosum volumes in individuals with m..:

King, Kelly E. ; Rudser, Kyle D. ; Nestrasil, Igor...
Neurology. 92 (2019) 20 - p. , 2019

Link: https://doi.org/10.1212/..

15

A comparison of stem cell transplant versus enzyme replacem..:

Kearney, Shauna ; Stewart, Catherine ; Stewart, Alice..
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S76 , 2018

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