E-LIB Suche - Ergebnisse für: Chapman, Kimberly A.

1

De novo variants in the RNU4-2 snRNA cause a frequent neuro..:

Chen, Yuyang ; Dawes, Ruebena ; Kim, Hyung Chul...
Nature. , 2024

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

2

Death associated with brain herniation in classical MSUD pa..:

Leon, Eyby ; Shur, Natasha ; Chapman, Kimberly...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108297 , 2024

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

3

P184: Hypermobility clinic: Innovative workflow supporting ..:

Chapman, Kimberly ; Vause, Spencer ; Berger, Seth...
Genetics in Medicine Open. 2 (2024) - p. 101081 , 2024

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

4

Optimizing nutrition in propionic acidemia (PA) and methylm..:

Starin, Danielle ; MacLeod, Erin ; Chapman, Kimberly A.
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108262 , 2024

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

5

P054: When to look for homocystinuria: Preliminary results ..:

Chapman, Kimberly ; Vogal-Farley, Vanessa ; Bartke, Danae'
Genetics in Medicine Open. 2 (2024) - p. 100931 , 2024

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

6

HCU Network America patient surveys help define what is imp..:

Chapman, Kimberly ; Vogel-Farley, Vanessa ; Bartke, Danae
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108213 , 2024

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

7

Case report: Two unexpected cases of DGUOK-related mitochon..:

Guzman, Herodes ; Yazdani, Sahr ; Harmon, Jennifer L....
Frontiers in Endocrinology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

8

Solid organ transplantation in methylmalonic acidemia and p..:

Sen, Kuntal ; Burrage, Lindsay C. ; Chapman, Kimberly A....
Genetics in Medicine. 25 (2023) 2 - p. 100337 , 2023

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

9

16 Relative Contributions of Motor and Non-Motor Symptoms t..:

Goldstein, Allyson ; Chapman, Kimberly ; Akbar, Umer.
Journal of the International Neuropsychological Society. 29 (2023) s1 - p. 533-534 , 2023

Link: https://doi.org/10.1017/..

10

DISEASE-RELATED BIOMARKER LEVELS IN PROPIONIC AND METHYLMAL..:

Chapman, Kimberly ; Gannon, Jennifer ; Vockley, Jerry...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107397 , 2023

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

11

EARLY ONSET CLINICAL AND BIOCHEMICAL PHENOTYPE OF COBALAMIN..:

Leon, Eyby ; MacLeod, Erin ; Grant, Christina Lee..
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107444 , 2023

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

12

O06: Insights from the first genetic evaluation of a longit..:

Pramparo, Tiziano ; Chapman, Kimberly ; Chen, Ying...
Genetics in Medicine Open. 1 (2023) 1 - p. 100007 , 2023

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

13

USE OF ASPARTATE AMINOTRANSFERASE AS A MARKER FOR ACUTE RHA..:

Wilson, Kirkland ; Regier, Deb ; Chapman, Kimberly A.
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107501 , 2023

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

14

Dental complications in homocystinurias:

Chapman, Kimberly A. ; Bartke, Danae ; Vogel-Farley, Vanessa..
Molecular Genetics and Metabolism Reports. 36 (2023) - p. 100999 , 2023

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

15

Triheptanoin for the treatment of long‐chain fatty acid oxi..:

Vockley, Jerry ; Burton, Barbara K. ; Berry, Gerard...
Journal of Inherited Metabolic Disease. 46 (2023) 5 - p. 943-955 , 2023

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