E-LIB Suche - Ergebnisse für: Carson, Vincent J.

1

120 Treatable Acute Neuroinflammatory Disease Associated wi..:

Reid, Whitney ; Carson, Vincent ; Krieger, Portia...
Clinical Immunology. 262 (2024) - p. 110062 , 2024

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

2

P004: Urine polyols for diagnosis of sorbitol dehydrogenase..:

White, Amy ; Bontrager, Jordan ; Laxen, William...
Genetics in Medicine Open. 2 (2024) - p. 100881 , 2024

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

3

WiTNNess: An international natural history study of infanti..:

Strauss, Kevin A. ; Carson, Vincent J. ; Bolettieri, Emilienne...
Annals of Clinical and Translational Neurology. 10 (2023) 11 - p. 1972-1984 , 2023

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

4

NPRL3 loss alters neuronal morphology, mTOR localization, c..:

Iffland II, Philip H ; Everett, Mariah E ; Cobb-Pitstick, Katherine M...
Brain. 145 (2022) 11 - p. 3872-3885 , 2022

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

5

Nusinersen by subcutaneous intrathecal catheter for symptom..:

Carson, Vincent J. ; Young, Millie ; Brigatti, Karlla W....
Muscle & Nerve. 65 (2021) 1 - p. 51-59 , 2021

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

6

Homozygosity for hypomorphic alleles: lessons from founder ..:

Puffenberger, Erik ; Strauss, Kevin ; Carson, Vincent.
Molecular Genetics and Metabolism. 132 (2021) - p. S217-S218 , 2021

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

7

Chronic Meningitis Due to Prototheca zopfii in an Adolescen..:

Joerger, Torsten ; Sulieman, Salwa ; Carson, Vincent J.
Journal of the Pediatric Infectious Diseases Society. 10 (2020) 3 - p. 370-372 , 2020

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

8

Glutaric acidemia type 1: Treatment and outcome of 168 pati..:

Strauss, Kevin A. ; Williams, Katie B. ; Carson, Vincent J....
Molecular Genetics and Metabolism. 131 (2020) 3 - p. 325-340 , 2020

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

9

Branched-chain α-ketoacid dehydrogenase deficiency (maple s..:

Strauss, Kevin A. ; Carson, Vincent J. ; Soltys, Kyle...
Molecular Genetics and Metabolism. 129 (2020) 3 - p. 193-206 , 2020

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

10

De Novo and Inherited Variants in GBF1 are Associated with ..:

Mendoza-Ferreira, Natalia ; Karakaya, Mert ; Cengiz, Nur...
The American Journal of Human Genetics. 107 (2020) 4 - p. 763-777 , 2020

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

11

Crigler‐Najjar Syndrome Type 1: Pathophysiology, Natural Hi..:

Strauss, Kevin A. ; Ahlfors, Charles E. ; Soltys, Kyle...
Hepatology. 71 (2020) 6 - p. 1923-1939 , 2020

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

12

GATORopathies: The role of amino acid regulatory gene mutat..:

Iffland II, Philip H. ; Carson, Vincent ; Bordey, Angelique.
Epilepsia. 60 (2019) 11 - p. 2163-2173 , 2019

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

13

Recessive GM3 synthase deficiency: Natural history, biochem..:

Bowser, Lauren E. ; Young, Millie ; Wenger, Olivia K....
Molecular Genetics and Metabolism. 126 (2019) 4 - p. 475-488 , 2019

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

14

233rd ENMC International Workshop:

Lostal, William ; Urtizberea, J. Andoni ; Richard, Isabelle...
Neuromuscular Disorders. 28 (2018) 6 - p. 540-549 , 2018

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

15

Spinal muscular atrophy within Amish and Mennonite populati..:

Carson, Vincent J. ; Puffenberger, Erik G. ; Bowser, Lauren E....
PLOS ONE. 13 (2018) 9 - p. e0202104 , 2018

Link: https://doi.org/10.1371/..