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Page 1
Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn.
Almannai M, Aldehaimi A, Peake RWA, Almontashiri NAM. Almannai M, et al. Among authors: almontashiri nam. Clin Chem. 2021 Jan 8;67(1):327-330. doi: 10.1093/clinchem/hvaa151. Clin Chem. 2021. PMID: 33418581 No abstract available.
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Alharby E, Faqeih EA, Saleh M, Alameer S, Almuntashri M, Pastore A, Samman MA, Alnawfal AM, Hashem M, Zaytuni D, Alharbi G, Almannai M, Alasmari A, Mahmoud AA, Alwadei AH, Jad L, AlOtaibi A, Al-Hakami F, Eyaid W, Alkuraya FS, Alfadhel M, Peake RWA, Almontashiri NAM. Alharby E, et al. Among authors: almontashiri nam. Genet Med. 2020 Dec;22(12):2071-2080. doi: 10.1038/s41436-020-0919-x. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741967 Free article.
New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.
Alhebbi H, Peer-Zada AA, Al-Hussaini AA, Algubaisi S, Albassami A, AlMasri N, Alrusayni Y, Alruzug IM, Alharby E, Samman MA, Ayoub SZ, Maddirevula S, Peake RWA, Alkuraya FS, Wali S, Almontashiri NAM. Alhebbi H, et al. Among authors: almontashiri nam. J Hum Genet. 2021 Feb;66(2):151-159. doi: 10.1038/s10038-020-0811-1. Epub 2020 Aug 6. J Hum Genet. 2021. PMID: 32759993
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Al-Fadhli FM, Afqi M, Sairafi MH, Almuntashri M, Alharby E, Alharbi G, Abdud Samad F, Hashmi JA, Zaytuni D, Bahashwan AA, Choi JH, Peake RWA, Beutler B, Almontashiri NAM. Al-Fadhli FM, et al. Among authors: almontashiri nam. Clin Genet. 2021 May;99(5):694-703. doi: 10.1111/cge.13930. Epub 2021 Feb 17. Clin Genet. 2021. PMID: 33495992
55 results