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Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias.
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
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.
Al-Dirbashi OY, Alfadhel M, Al-Thihli K, Al Dhahouri N, Langhans CD, Al Hammadi Z, Al-Shamsi A, Hertecant J, Okun JG, Hoffmann GF, Al-Jasmi F.
Al-Dirbashi OY, et al. Among authors: al dhahouri n.
Sci Rep. 2019 Aug 26;9(1):12366. doi: 10.1038/s41598-019-48885-9.
Sci Rep. 2019.
PMID: 31451751
Free PMC article.
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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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