E-LIB Suche - Ergebnisse für: Raymond, Kimiyo

1

A complement C4–derived glycopeptide is a biomarker for PMM..:

Garapati, Kishore ; Budhraja, Rohit ; Saraswat, Mayank...
JCI Insight. 9 (2024) 7 - p. , 2024

2

Mass spectrometric analysis of chondroitin sulfate-linked p..:

Ramarajan, Madan Gopal ; Saraswat, Mayank ; Budhraja, Rohit...
Journal of Proteins and Proteomics. 13 (2022) 4 - p. 187-203 , 2022

Link: https://doi.org/10.1007/..

3

Outcomes of newborn screening for Krabbe disease and their ..:

White, Amy L. ; Gavrilov, Dimitar ; Pino, Gisele...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S127-S128 , 2022

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

4

Comparison of psychosine analysis in dried blood spots and ..:

White, Amy L. ; Escolar, Maria L. ; Peck, Dawn...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S127 , 2022

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

5

Defining the mild variant of leukocyte adhesion deficiency ..:

Tahata, Shawn ; Raymond, Kimiyo ; Quade, Marie...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2005-2018 , 2022

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

6

eP038: A new biochemical assay to measure plasmalogens with..:

Wegwerth, Peter ; Gavrilov, Dimitar ; White, Amy...
Genetics in Medicine. 24 (2022) 3 - p. S25 , 2022

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

7

The synergy of multiplex testing to screen for lysosomal di..:

Pino, Gisele ; Nickander, Kim ; Studinski, April...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S98-S99 , 2022

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

8

FLAVIN ADENOSINE DINUCLEOTIDE SYNTHASE DEFICIENCY AN ATYPIC..:

Stander, Zinandre ; Ammous, Zineb ; Werker, Jody...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 300 , 2022

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

9

NGLY1 Deficiency: A Rare Newly Described Condition with a T..:

Dabaj, Ivana ; Sudrié-Arnaud, Bénédicte ; Lecoquierre, François...
Life. 11 (2021) 3 - p. 187 , 2021

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

10

How does plasma oxysterols analysis compare to fibroblast f..:

White, Amy ; Turgeon, Coleman ; Peck, Dawn...
Molecular Genetics and Metabolism. 132 (2021) - p. S2-S3 , 2021

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

11

Improving the performance of newborn screening for mucopoly..:

Peck, Dawn ; White, Amy ; Pino, Gisele...
Molecular Genetics and Metabolism. 132 (2021) - p. S23 , 2021

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

12

Congenital disorder of glycosylation caused by starting sit..:

Linders, Peter T. A. ; Gerretsen, Eveline C. F. ; Ashikov, Angel...
Nature Communications. 12 (2021) 1 - p. , 2021

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

13

Liver manifestations in a cohort of 39 patients with congen..:

Starosta, Rodrigo Tzovenos ; Boyer, Suzanne ; Tahata, Shawn...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

14

Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeu..:

Ligezka, Anna N. ; Radenkovic, Silvia ; Saraswat, Mayank...
Annals of Neurology. 90 (2021) 6 - p. 887-900 , 2021

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

15

The role of biomarkers for the follow up of infants with po..:

Pino, Gisele ; Studinski, April ; White, Amy...
Molecular Genetics and Metabolism. 132 (2021) - p. S20 , 2021

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