E-LIB Suche - Ergebnisse für: Pitt, James J

1

A metabolic signature for NADSYN1-dependent congenital NAD ..:

Szot, Justin O. ; Cuny, Hartmut ; Martin, Ella M.M.A....
Journal of Clinical Investigation. 134 (2024) 4 - p. , 2024

Link: https://doi.org/10.1172/..

2

Evaluation of onboard sensors for track geometry monitoring..:

Zhang, Hengcheng ; Chin, Zhan Yie ; Borghesani, Pietro..
Measurement. 229 (2024) - p. 114354 , 2024

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

3

Consensus guidelines for the diagnosis and management of is..:

Schwahn, Bernd C. ; van Spronsen, Francjan ; Misko, Albert...
Journal of Inherited Metabolic Disease. 47 (2024) 4 - p. 598-623 , 2024

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

4

Further delineation of short-chain enoyl-CoA hydratase defi..:

Bernhardt, Isaac ; Frajman, Leah E. ; Ryder, Bryony...
Molecular Genetics and Metabolism. 142 (2024) 3 - p. 108508 , 2024

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

5

Counting Conditions on Newborn Bloodspot Screening Panels i..:

Heather, Natasha ; Greaves, Ronda F. ; Bhattacharya, Kaustuv...
International Journal of Neonatal Screening. 10 (2024) 3 - p. 47 , 2024

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

6

Best Practice for Identification of Classical 21-Hydroxylas..:

Greaves, Ronda F. ; Kumar, Monish ; Mawad, Nazha...
International Journal of Neonatal Screening. 9 (2023) 4 - p. 58 , 2023

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

7

Efficacy and safety of factor Xa inhibitors in low body wei..:

Tan, Yingcong ; Hubbard, Cynthia ; Owens, Holly...
Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy. 44 (2023) 2 - p. 131-140 , 2023

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

8

MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man t..:

Post, Merel A. ; de Wit, Isis ; Zijlstra, Fokje S. M....
Journal of Inherited Metabolic Disease. 46 (2023) 2 - p. 313-325 , 2023

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

9

Interstitial lung disease and pancreatic exocrine insuffici..:

Heath, Oliver ; Pandithan, Dinusha ; Pitt, James...
JIMD Reports. 64 (2023) 5 - p. 337-345 , 2023

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

10

Detecting inborn errors of metabolism by targeted metabolom..:

Lee, Joy ; Greaves, Ronda ; Hong, Kai Mun...
Pathology. 55 (2023) - p. S16 , 2023

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

11

Loss of mitochondrial fatty acid β‐oxidation protein short‐..:

Burgin, Harrison ; Sharpe, Alice J. ; Nie, Shuai...
The FEBS Journal. 290 (2022) 1 - p. 225-246 , 2022

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

12

Disorders in sterol metabolism: A case series:

Lee, Joy ; Kiss, Sharmila ; Amor, David J....
Pathology. 54 (2022) - p. S14 , 2022

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

13

Pyridoxine dependent epilepsy: Diagnostic proficiency of ne..:

Hong, Kai M. ; Heath, Oliver ; Halligan, Rebecca...
Pathology. 54 (2022) - p. S17-S18 , 2022

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

14

The relationship between beta-ureidopropionase deficiency d..:

Righetti, Sarah ; Allcock, Richard J.N. ; Yaplito-Lee, Joy...
Molecular Genetics and Metabolism. 137 (2022) 1-2 - p. 62-67 , 2022

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

15

Newborn bloodspot screening in the time of COVID-19:

Greaves, Ronda F. ; Pitt, James ; McGregor, Candice..
Genetics in Medicine. 23 (2021) 6 - p. 1143-1150 , 2021

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