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Rinaldo, Piero
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1

eP033: COASY-associated pontocerebellar hypoplasia – A poss..:

Stander, Zinandré ; Rosati, Justin ; Johnson, Jessica...
Genetics in Medicine.  24 (2022)  3 - p. S22 , 2022
Link: https://doi.org/10.1016/..
 
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2

Population-Based Screening of Newborns: Findings From the N..:

Brower, Amy ; Chan, Kee ; Williams, Marc...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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3

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/..
 
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4

A Novel Approach to Improve Newborn Screening for Congenita..:

Rowe, Alexander D. ; Stoway, Stephanie D. ; Åhlman, Henrik...
International Journal of Neonatal Screening.  7 (2021)  2 - p. 23 , 2021
Link: https://doi.org/10.3390/..
 
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5

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

White, Amy ; Guenzel, Adam ; Turgeon, Coleman...
Molecular Genetics and Metabolism.  132 (2021)  - p. S29-S30 , 2021
Link: https://doi.org/10.1016/..
 
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6

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/..
 
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7

Maternal serum lipidomics identifies lysophosphatidic acid ..:

Byeon, Seul Kee ; Khanam, Rasheda ; Rahman, Sayedur...
Molecular Omics.  17 (2021)  6 - p. 956-966 , 2021
Link: https://doi.org/10.1039/..
 
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8

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/..
 
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9

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/..
 
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10

Indoxyl sulfate, a gut microbiome-derived uremic toxin, is ..:

Brydges, Christopher R. ; Fiehn, Oliver ; Mayberg, Helen S....
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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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/..
 
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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/..
 
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13

Validation of a multiplex flow immunoassay for detection of..:

Turgeon, Coleman T. ; Sanders, Karen A. ; Rinaldo, Piero...
PLOS ONE.  16 (2021)  5 - p. e0252621 , 2021
Link: https://doi.org/10.1371/..
 
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14

Incorporation of Second-Tier Biomarker Testing Improves the..:

Peck, Dawn S. ; Lacey, Jean M. ; White, Amy L....
International Journal of Neonatal Screening.  6 (2020)  1 - p. 10 , 2020
Link: https://doi.org/10.3390/..
 
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15

Multiplex testing for the screening of lysosomal storage di..:

Pino, Gisele ; Conboy, Erin ; Tortorelli, Silvia...
Molecular Genetics and Metabolism.  129 (2020)  2 - p. 106-110 , 2020
Link: https://doi.org/10.1016/..
 
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