E-LIB Suche - Ergebnisse für: Rizzo, William B.

1

Cholic acid increases plasma cholesterol in Smith-Lemli-Opi..:

Elias, Ellen R. ; Orth, Lucas E. ; Li, Amy...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101030 , 2024

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

2

Pangenome graphs improve the analysis of structural variant..:

Groza, Cristian ; Schwendinger-Schreck, Carl ; Cheung, Warren A....
Nature Communications. 15 (2024) 1 - p. , 2024

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

3

Direct haplotype-resolved 5-base HiFi sequencing for genome..:

Cheung, Warren A. ; Johnson, Adam F. ; Rowell, William J....
Nature Communications. 14 (2023) 1 - p. , 2023

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

4

Untargeted Metabolomic Analysis of Sjögren–Larsson Syndrome..:

Dai, Hongying Daisy ; Qiu, Fang ; Jackson, Kimberly..
Metabolites. 13 (2023) 6 - p. 682 , 2023

Link: https://doi.org/10.3390/..

5

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebr..:

Baker, Craig V. ; Cady Keller, Alyssa ; Lutz, Richard...
International Journal of Neonatal Screening. 8 (2022) 2 - p. 29 , 2022

Link: https://doi.org/10.3390/..

6

Sjögren-Larsson syndrome: A biochemical rationale for using..:

Rizzo, William B. ; S'aulis, Dana ; Dorwart, Elizabeth.
Molecular Genetics and Metabolism Reports. 30 (2022) - p. 100839 , 2022

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

7

NovelALDH3A2mutations in structural and functional domains ..:

Rajeshwari, Mohan ; Karthi, Sellamuthu ; Singh, Reetu...
Human Mutation. 42 (2021) 8 - p. 1015-1029 , 2021

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

8

A Neurodegenerative Phenotype Associated With Sjögren-Larss..:

Warrack, Simone ; Love, Terri ; Rizzo, William B.
Journal of Child Neurology. 36 (2021) 11 - p. 1011-1016 , 2021

Link: https://doi.org/10.1177/..

9

Development of a Quality-of-Life Survey for Patients With S..:

Bose, Mousumi ; Roullet, Jean-Baptiste ; Gibson, K. Michael...
Journal of Child Neurology. 36 (2021) 13-14 - p. 1223-1230 , 2021

Link: https://doi.org/10.1177/..

10

1-O-Alkylglycerol accumulation reveals abnormal ether glyce..:

S'aulis, Dana ; Khoury, Emily A. ; Zabel, Morgan.
Molecular Genetics and Metabolism. 131 (2020) 1-2 - p. 253-258 , 2020

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

11

Sjögren‐Larsson syndrome: Anesthetic considerations and pra..:

Franzen, Marcellene H. ; LeRiger, Michelle M. ; Pellegrino, Kaitlyn P....
Pediatric Anesthesia. 30 (2020) 12 - p. 1390-1395 , 2020

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

12

Formation and characterization of lipid droplets of the bov..:

Talbott, Heather A. ; Plewes, Michele R. ; Krause, Crystal...
Scientific Reports. 10 (2020) 1 - p. , 2020

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

13

Zellweger spectrum disorder: A cross-sectional study of sym..:

Bose, Mousumi ; Cuthbertson, David D. ; Fraser, Marsha A....
Molecular Genetics and Metabolism Reports. 25 (2020) - p. 100694 , 2020

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

14

Disturbed brain ether lipid metabolism and histology in Sjö..:

Staps, Pippa ; Rizzo, William B. ; Vaz, Frédéric M....
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1265-1278 , 2020

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

15

Emotional experience in parents of children with Zellweger ..:

Bose, Mousumi ; Mahadevan, Meena ; Schules, Dana R....
Molecular Genetics and Metabolism Reports. 19 (2019) - p. 100459 , 2019

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