E-LIB Suche - Ergebnisse für: Alharbi, Hana

1

Metabolomics profiling of deoxyguanosine kinase (DGUOK) def..:

Alharbi, Hana ; Naji, Hamzah ; AlMalki, Reem...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108278 , 2024

2

Fractionated plasma N‐glycan profiling of novel cohort of A..:

Alharbi, Hana ; Daniel, Earnest James Paul ; Thies, Jenny...
Journal of Inherited Metabolic Disease. 46 (2023) 2 - p. 300-312 , 2023

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

3

IMPROVING THE DIAGNOSTIC EVALUATION OF CHILDREN WITH INTELL..:

Alharbi, Hana ; Davis, Torrin ; Desrochers, Colette...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107383 , 2023

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

4

A 6-Month-Old Infant with Severe Failure to Thrive during C..:

Hong, Xinying ; Alharbi, Hana ; Albokhari, Daniah..
Clinical Chemistry. 68 (2022) 7 - p. 987-989 , 2022

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

5

Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patie..:

Alharbi, Hana ; Hong, Xinying ; Ritter, Alyssa...
Clinical Chemistry. 68 (2022) 2 - p. 365-367 , 2022

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

6

Normal Biomarkers in an Acute Presentation in a Known Case ..:

Alharbi, Hana ; Bennett, Michael J ; He, Miao..
Clinical Chemistry. 67 (2021) 12 - p. 1735-1737 , 2021

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

7

The Importance of Succinylacetone: Tyrosinemia Type I Prese..:

Priestley, Jessica R. C. ; Alharbi, Hana ; Callahan, Katharine Press...
International Journal of Neonatal Screening. 6 (2020) 2 - p. 39 , 2020

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

8

Urinary Uracil: A Useful Marker for Ornithine Transcarbamyl..:

He, Miao ; Ganetzky, Rebecca ; Priestley, Jessica..
Clinical Chemistry. 66 (2020) 7 - p. 988-989 , 2020

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

9

Mitochondrial fatty acid oxidation and the electron transpo..:

Wang, Yudong ; Palmfeldt, Johan ; Gregersen, Niels...
Journal of Biological Chemistry. 294 (2019) 33 - p. 12380-12391 , 2019

Link: https://doi.org/10.1074/..

10

Neurological Complications following Blood Transfusions in ..:

Alharbi, Hana ; Khawar, Nayaab ; Kulpa, Jolanta...
Case Reports in Hematology. 2017 (2017) - p. 1-3 , 2017

Link: https://doi.org/10.1155/..

11

Complex I assembly function and fatty acid oxidation enzyme..:

Schiff, Manuel ; Haberberger, Birgit ; Xia, Chuanwu...
Human Molecular Genetics. 24 (2015) 11 - p. 3238-3247 , 2015

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

12

Cardioprotective Effects of the GRK2 Inhibitor Paroxetine o..:

Alonazi, Asma S. ; Bin Dayel, Anfal F. ; Albuaijan, Danah A....
International Journal of Molecular Sciences. 24 (2023) 24 - p. 17270 , 2023

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

13

Fractionated plasma N-glycan profiling of novel cohort of A..:

Alharbi, Hana ; Daniel, Earnest James Paul ; Thies, Jenny...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10047170/. , 2023

Link: http://www.ncbi.nlm.nih...

14

Urinary Uracil: A Useful Marker for Ornithine Transcarbamyl..:

Alsharhan, Hind ; Alharbi, Hana ; Priestley, Jessica..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8132215/. , 2020

Link: http://www.ncbi.nlm.nih...

15

The Importance of Succinylacetone: Tyrosinemia Type I Prese..:

Priestley, Jessica R. C ; Alharbi, Hana ; Callahan, Katharine Press...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422996/. , 2020

Link: http://www.ncbi.nlm.nih...