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Adult GAMT deficiency: A literature review and report of two siblings.
Modi BP, Khan HN, van der Lee R, Wasim M, Haaxma CA, Richmond PA, Drögemöller B, Shah S, Salomons G, van der Kloet FM, Vaz FM, van der Crabben SN, Ross CJ, Wasserman WW, van Karnebeek CDM, Awan FR. Modi BP, et al. Among authors: khan hn. Mol Genet Metab Rep. 2021 Apr 26;27:100761. doi: 10.1016/j.ymgmr.2021.100761. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33996490 Free PMC article.
Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.
Wasim M, Khan HN, Ayesha H, Iqbal M, Tawab A, Irfan M, Kanhai W, Goorden SMI, Stroomer L, Salomons G, Vaz FM, Karnebeek CDMV, Awan FR. Wasim M, et al. Among authors: khan hn. J Pediatr Endocrinol Metab. 2021 Dec 14;35(3):325-332. doi: 10.1515/jpem-2021-0508. Print 2022 Mar 28. J Pediatr Endocrinol Metab. 2021. PMID: 34905667
88 results