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Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.
Sci Rep. 2019 Aug 26;9(1):12366. doi: 10.1038/s41598-019-48885-9.
Sci Rep. 2019.
PMID: 31451751
Free PMC article.
Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias.
Al Dhahouri N, Langhans CD, Al Hammadi Z, Okun JG, Hoffmann GF, Al-Jasmi F, Al-Dirbashi OY.
Al Dhahouri N, et al.
Clin Chim Acta. 2018 Dec;487:41-45. doi: 10.1016/j.cca.2018.09.017. Epub 2018 Sep 11.
Clin Chim Acta. 2018.
PMID: 30217751
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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 CDH23 Gene.
Al Dhahouri N, Ali A, Hertecant J, Al-Jasmi F.
Al Dhahouri N, et al.
Front Pediatr. 2022 Feb 3;9:803732. doi: 10.3389/fped.2021.803732. eCollection 2021.
Front Pediatr. 2022.
PMID: 35186827
Free PMC article.
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Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N, Al Mansoori G, Al Zaabi A, Badics A, Al Dhaheri N, Al Shamsi A, Al Tenaiji A, Alzohily B, Almesmari FSA, Al Hammadi H, Al Dhahouri N, Irshaid M, Kizhakkedath P, Al Shibli F, Tabouni M, Allam M, Baydoun I, Alblooshi H, Ali BR, Foo RS, Al Jasmi F.
Akawi N, et al. Among authors: al dhahouri n.
Front Mol Biosci. 2024 Oct 1;11:1451457. doi: 10.3389/fmolb.2024.1451457. eCollection 2024.
Front Mol Biosci. 2024.
PMID: 39411402
Free PMC article.
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