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SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.
Front Genet. 2021 Dec 1;12:737094. doi: 10.3389/fgene.2021.737094. eCollection 2021.
Front Genet. 2021.
PMID: 34925443
Free PMC article.
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskär KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V, Rahman S.
Hikmat O, et al. Among authors: kamarus jaman nb.
Ann Clin Transl Neurol. 2021 Nov;8(11):2155-2165. doi: 10.1002/acn3.51470. Epub 2021 Oct 18.
Ann Clin Transl Neurol. 2021.
PMID: 34662929
Free PMC article.
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The natural history of glycogen storage disease type Ib in England: A multisite survey.
Halligan R, White FJ, Schwahn B, Stepien KM, Kamarus Jaman N, McSweeney M, Kitchen S, Gribben J, Dawson C, Lewis K, Cregeen D, Mundy H, Santra S.
Halligan R, et al. Among authors: kamarus jaman n.
JIMD Rep. 2021 Jan 24;59(1):52-59. doi: 10.1002/jmd2.12200. eCollection 2021 May.
JIMD Rep. 2021.
PMID: 33977030
Free PMC article.
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