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Kristin Engelstad
83
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Online (83)
Mediatypes
Articles (Online) (54)
OpenAccess-fulltext (29)
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1
A United States-based patient-reported adult polyglucosan b..:
Sparks, Jacy
;
Michelassi, Francesco
;
Thompson, John L. P.
...
Therapeutic Advances in Rare Disease. 5 (2024) - p. , 2024
Link:
https://doi.org/10.1177/..
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2
Quantitative determination of SLC2A1 variant functional eff..:
Tayebi, Naeimeh
;
Leon‐Ricardo, Brian
;
McCall, Kevin
...
Annals of Clinical and Translational Neurology. 10 (2023) 5 - p. 787-801 , 2023
Link:
https://doi.org/10.1002/..
?
3
Newborn Screening for Spinal Muscular Atrophy in New York S..:
Lee, Bo Hoon
;
Deng, Stella
;
Chiriboga, Claudia A.
...
Neurology. 99 (2022) 14 - p. , 2022
Link:
https://doi.org/10.1212/..
?
4
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects..:
Berardo, Andres
;
Domínguez-González, Cristina
;
Engelstad, Kristin
.
Journal of Neuromuscular Diseases. 9 (2022) 2 - p. 225-235 , 2022
Link:
https://doi.org/10.3233/..
?
5
Visual memory failure presages conversion to MELAS phenotyp:
Leaffer, Emily B.
;
De Vivo, Darryl C.
;
Engelstad, Kristin
...
Annals of Clinical and Translational Neurology. 9 (2022) 6 - p. 841-852 , 2022
Link:
https://doi.org/10.1002/..
?
6
Exploring triheptanoin as treatment for short chain enoyl C..:
Engelstad, Kristin
;
Salazar, Rachel
;
Koenigsberger, Dorcas
...
Annals of Clinical and Translational Neurology. 8 (2021) 5 - p. 1151-1157 , 2021
Link:
https://doi.org/10.1002/..
?
7
Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial ..:
Towheed, Atif
;
Hietanen, Christian L.
;
Kamath, Vasudeva G.
...
Annals of Clinical and Translational Neurology. 8 (2021) 11 - p. 2199-2204 , 2021
Link:
https://doi.org/10.1002/..
?
8
Regulatory environment for novel therapeutic development in..:
Hirano, Michio
;
Berardo, Andres
;
Barca, Emanuele
...
Journal of Inherited Metabolic Disease. 44 (2021) 2 - p. 292-300 , 2021
Link:
https://doi.org/10.1002/..
?
9
Implementation of population-based newborn screening reveal..:
Kay, Denise M.
;
Stevens, Colleen F.
;
Parker, April
...
Genetics in Medicine. 22 (2020) 8 - p. 1296-1302 , 2020
Link:
https://doi.org/10.1038/..
?
10
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 20..:
Klepper, Joerg
;
Akman, Cigdem
;
Armeno, Marisa
...
Epilepsia Open. 5 (2020) 3 - p. 354-365 , 2020
Link:
https://doi.org/10.1002/..
?
11
Exploring mTOR inhibition as treatment for mitochondrial di..:
Sage‐Schwaede, Abigail
;
Engelstad, Kristin
;
Salazar, Rachel
...
Annals of Clinical and Translational Neurology. 6 (2019) 9 - p. 1877-1881 , 2019
Link:
https://doi.org/10.1002/..
?
12
Exploring Triheptanoin as Treatment for Short Chain Enoyl C..:
Engelstad, Kristin
;
Salazar, Rachael
;
Koenigsberger, Dorcas
...
Neurology. 92 (2019) 15_supplement - p. , 2019
Link:
https://doi.org/10.1212/..
?
13
Exploring mTOR Inhibition as Treatment for Mitochondrial Di..:
Sage, Abigail
;
Salazar, Rachel
;
Engelstad, Kristin
...
Neurology. 92 (2019) 15_supplement - p. , 2019
Link:
https://doi.org/10.1212/..
?
14
Intra-familial variability associated with recessive mutati..:
Emmanuele, Valentina
;
De Araujo Martins Moreno, Christiane
;
Testa, Francine
...
Neurology. 90 (2018) 15_supplement - p. , 2018
Link:
https://doi.org/10.1212/..
?
15
Mitochondrial disease phenotypes of 999 patients in the Nor..:
Barca, Emanuele
;
Cooley, Victoria
;
Schoenaker, Robert
...
Neurology. 90 (2018) 15_supplement - p. , 2018
Link:
https://doi.org/10.1212/..
1-15