Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism OY Al-Dirbashi, M Alfadhel, K Al-Thihli, N Al Dhahouri, CD Langhans, ... Scientific reports 9 (1), 12366, 2019 | 22 | 2019 |
Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias N Al Dhahouri, CD Langhans, Z Al Hammadi, JG Okun, GF Hoffmann, ... Clinica Chimica Acta 487, 41-45, 2018 | 21 | 2018 |
Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the … N Al Dhahouri, A Ali, J Hertecant, F Al-Jasmi Frontiers in Pediatrics 9, 803732, 2022 | 1 | 2022 |
Analysis of tricarboxylic acid cycle intermediates in dried blood spots by ultraperformance liquid chromatography-tandem mass spectrometry L Alhammadi, MA Abdulla, N Ahli, N Al Dhahouri, A Al Aidaros, F Al-Jasmi, ... Journal of Biochemical and Clinical Genetics 2 (2), 93-93, 2020 | 1 | 2020 |
Characterizing the Genetic Basis of Inherited Cardiomyopathies in Families From the United Arab Emirates N Akawi, A Al Zaabi, AM Badics, RS Foo, H Alblooshi, A Albawa'neh, ... | | 2022 |
MONITORING AND DIAGNOSIS OF PROPIONIC AND METHYLMALONIC ACIDEMIA USING METHYLCITRATE TO CITRATE RATIO AS NOVEL BIOMARKER O Al Dirbashi, M Alfadhel, N Al Dhahouri, CD Langhans, Z Al Hammadi, ... MOLECULAR GENETICS AND METABOLISM 127 (3), 246-246, 2019 | | 2019 |