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Carson, Vincent J.
100
results:
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1
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/..
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2
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/..
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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/..
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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/..
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5
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/..
?
6
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/..
?
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
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/..
?
9
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/..
?
10
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/..
?
11
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/..
?
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/..
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13
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/..
?
14
Homozygosity for a mutation affecting the catalytic domain ..:
Williams, Katie B
;
Brigatti, Karlla W
;
Puffenberger, Erik G
...
Human Molecular Genetics. 28 (2018) 4 - p. 525-538 , 2018
Link:
https://doi.org/10.1093/..
?
15
TNNT1 nemaline myopathy: natural history and therapeutic fr..:
Fox, Michael D
;
Carson, Vincent J
;
Feng, Han-Zhong
...
Human Molecular Genetics. 27 (2018) 18 - p. 3272-3282 , 2018
Link:
https://doi.org/10.1093/..
1-15