E-LIB Suche - Ergebnisse für: Gelb, Michael H.

1

Second-tier glycosaminoglycan analysis in dried blood spots..:

Gelb, Michael H. ; Herbst, Zackary M. ; Fuller, Maria
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107836 , 2024

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

2

Quantification of N-acetyl-l-aspartate in dried blood spots..:

Posern, Christian ; Dreyer, Benjamin ; Maier, Sarah L....
Molecular Genetics and Metabolism. 142 (2024) 2 - p. 108489 , 2024

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

3

Tandem mass spectrometric enzyme assay for simultaneous det..:

Herbst, Zackary M. ; Hold, Stephan ; Gelb, Michael H..
Molecular Genetics and Metabolism. 142 (2024) 4 - p. 108517 , 2024

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

4

A novel iPSC model reveals selective vulnerability of neuro..:

Pham, Vi ; Sertori Finoti, Livia ; Cassidy, Margaret M....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108116 , 2024

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

5

It's time to reconsider the newborn screening RUSP prospect..:

Gelb, Michael H. ; Matern, Dietrich ; Ellinwood, Matthew.
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108352 , 2024

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

6

Cost-effectiveness framework by tandem mass spectrometry (T..:

Bean, Karen ; Gelb, Michael H. ; Adang, Laura A...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107769 , 2024

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

7

ScreenPlus: A comprehensive, multi-disorder newborn screeni..:

Kelly, Nicole R. ; Orsini, Joseph J. ; Goldenberg, Aaron J....
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101037 , 2024

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

8

Higher precision, first tier newborn screening for metachro..:

Bekri, Soumeya ; Bley, Annette ; Brown, Heather A....
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108436 , 2024

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

9

Tandem mass spectrometric assay of N-acetylglucosamine-6-su..:

Liu, Yuexuan ; Gelb, Michael H.
Molecular Genetics and Metabolism. 141 (2024) 1 - p. 108105 , 2024

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

10

Ultra-Performance Liquid Chromatography–Tandem Mass Spectro..:

Wongkittichote, Parith ; Cho, Se Hyun ; Miller, Artis...
Clinical Chemistry. 70 (2024) 6 - p. 865-877 , 2024

Link: https://doi.org/10.1093/..

11

Biomarkers of disease severity in multiple sulfatase defici..:

Ahrens-Nicklas, Rebecca C. ; Adang, Laura A. ; Schlotawa, Lars...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 106995 , 2023

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

12

First-tier next-generation sequencing for newborn screening..:

Stenton, Sarah L. ; Campagna, Madelynn ; Philippakis, Anthony..
Genetics in Medicine Open. 1 (2023) 1 - p. 100821 , 2023

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

13

A glimpse into the feasibility of next generation sequencin..:

Gelb, Michael H. ; Campagna, Madelynn ; Philippakis, Anthony A..
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107110 , 2023

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

14

Signature biomarkers for diagnosis, screening, and biochemi..:

Fuller, Maria ; Saville, Jennifer ; Gelb, Michael H.
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107107 , 2023

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

15

Newborn screening for Cerebrotendinous Xanthomatosis: A ret..:

Vaz, Frédéric M. ; Jamal, Youssra ; Barto, Rob...
Clinica Chimica Acta. 539 (2023) - p. 170-174 , 2023

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