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Molecular and clinical spectra of FBXL4 deficiency.
Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6.
Hum Mutat. 2017.
PMID: 28940506
Review.
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.
Nashabat M, Obaid A, Al Mutairi F, Saleh M, Elamin M, Ahmed H, Ababneh F, Eyaid W, Alswaid A, Alohali L, Faqeih E, Aljeraisy M, Hussein MA, Alasmari A, Alfadhel M.
Nashabat M, et al.
BMC Pediatr. 2019 Jun 13;19(1):195. doi: 10.1186/s12887-019-1571-y.
BMC Pediatr. 2019.
PMID: 31196016
Free PMC article.
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Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
Alfadhel M, Nashabat M, Saleh M, Elamin M, Alfares A, Al Othaim A, Umair M, Ahmed H, Ababneh F, Al Mutairi F, Eyaid W, Alswaid A, Alohali L, Faqeih E, Almannai M, Aljeraisy M, Albdah B, Hussein MA, Rahbeeni Z, Alasmari A.
Alfadhel M, et al.
Orphanet J Rare Dis. 2021 Oct 11;16(1):422. doi: 10.1186/s13023-021-02032-8.
Orphanet J Rare Dis. 2021.
PMID: 34635114
Free PMC article.
Clinical Trial.
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Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome.
Alharby E, Obaid M, Elamin MAO, Almuntashri M, Bakhsh I, Samman M, Peake RWA, Alasmari A, Almontashiri NAM.
Alharby E, et al. Among authors: elamin mao.
Neurol Genet. 2021 Apr 9;7(3):e586. doi: 10.1212/NXG.0000000000000586. eCollection 2021 Jun.
Neurol Genet. 2021.
PMID: 33855173
Free PMC article.
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