E-LIB Suche - Ergebnisse für: Yudkoff, Marc

1

Manifestations of OXCT1 heterozygosity:

Guzman, Herodes ; Murali, Chaya ; Yudkoff, Marc..
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108343 , 2024

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

2

Relationship between longitudinal changes in neuropsycholog..:

Lichter-Konecki, Uta ; Sanz, Jacqueline H. ; Ah Mew, Nicholas...
Pediatric Research. 94 (2023) 6 - p. 2005-2015 , 2023

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

3

Phenotypes of undiagnosed adults with actionable OTC and GL..:

Gold, Jessica I. ; Madhavan, Sarina ; Park, Joseph...
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100226 , 2023

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

4

Optimized Nutrition in Mitochondrial Disease Correlates to ..:

DiVito, Donna ; Wellik, Amanda ; Burfield, Jessica...
Neurotherapeutics. 20 (2023) 6 - p. 1723-1745 , 2023

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

5

Inborn error of metabolism patients after liver transplanta..:

Pritchard, Amanda Barone ; Izumi, Kosuke ; Payan‐Walters, Irma...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1443-1447 , 2022

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

6

Long-term effects of medical management on growth and weigh..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Scientific Reports. 10 (2020) 1 - p. , 2020

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

7

Impact of Diagnosis and Therapy on Cognitive Function in Ur..:

Posset, Roland ; Gropman, Andrea L. ; Nagamani, Sandesh C. S....
Annals of Neurology. 86 (2019) 1 - p. 116-128 , 2019

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

8

Early diagnosis of infantile-onset lysosomal acid lipase de..:

Cohen, Jennifer L. ; Burfield, Jessica ; Valdez-Gonzalez, Karen...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

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

9

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Sy..:

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

Wild, Katherine Taylor ; Ganetzky, Rebecca D. ; Yudkoff, Marc. - p. 103-107 , 2018

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

10

Efficacy of early treatment in patients with cobalamin C di..:

Ahrens-Nicklas, Rebecca C. ; Whitaker, Ashley M. ; Kaplan, Paige...
Genetics in Medicine. 19 (2017) 8 - p. 926-935 , 2017

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

11

A Role for Bacterial Urease in Crohn's Disease and Gut Dysb..:

Ni, Josephine ; Shen, Ting-Chin David ; Chen, Eric Z....
Gastroenterology. 152 (2017) 5 - p. S111 , 2017

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

12

Human heterologous liver cells transiently improve hyperamm..:

Meyburg, Jochen ; Opladen, Thomas ; Spiekerkötter, Ute...
Journal of Inherited Metabolic Disease. 41 (2017) 1 - p. 81-90 , 2017

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

13

Propionyl‐CoA carboxylase pcca‐1 and pccb‐1 gene deletions ..:

Chapman, Kimberly A. ; Ostrovsky, Julian ; Rao, Meera...
Journal of Inherited Metabolic Disease. 41 (2017) 2 - p. 157-168 , 2017

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

14

In vivo monitoring of urea cycle activity with 13C-acetate ..:

Opladen, Thomas ; Lindner, Martin ; Das, Anibh M....
Molecular Genetics and Metabolism. 117 (2016) 1 - p. 19-26 , 2016

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

15

Interactions in the Metabolism of Glutamate and the Branche..:

Yudkoff, Marc
Neurochemical Research. 42 (2016) 1 - p. 10-18 , 2016

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