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Kristin Engelstad
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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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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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/..
 
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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/..
 
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