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

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/..

5

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/..

6

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/..

7

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/..

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

ALG8-CDG: new insights into an ultra-rare CDG:

Albokhari, Daniah ; Ng, Bobby ; Daniel, Earnest...
Molecular Genetics and Metabolism. 132 (2021) - p. S31-S32 , 2021

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

10

Familial variability of cerebrotendinous xanthomatosis lack..:

Guenzel, Adam J. ; DeBarber, Andrea ; Raymond, Kimiyo.
JIMD Reports. 59 (2021) 1 - p. 3-9 , 2021

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

11

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/..

12

The low excretor phenotype of glutaric acidemia type I is a..:

Guenzel, Adam J. ; Hall, Patricia L. ; Scott, Anna I....
JIMD Reports. 60 (2021) 1 - p. 67-74 , 2021

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

13

Disorders of porphyrin metabolism:

, In: Biochemical and Molecular Basis of Pediatric Disease,

Tortorelli, Silvia ; White, Amy L. ; Raymond, Kimiyo - p. 503-528 , 2021

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

14

A new D‐galactose treatment monitoring index for PGM1‐CDG:

Perales‐Clemente, Ester ; Liedtke, Kristen ; Studinski, April...
Journal of Inherited Metabolic Disease. 44 (2021) 5 - p. 1263-1271 , 2021

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

15

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/..