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Euthyroid patient with elevated serum free thyroxine.
van der Watt G, Haarburger D, Berman P. van der Watt G, et al. Clin Chem. 2008 Jul;54(7):1239-41. doi: 10.1373/clinchem.2007.101428. Clin Chem. 2008. PMID: 18593963 No abstract available.
Teenaged siblings with progressive neurocognitive disease.
Haarburger D, Renison R, Meldau S, Eastman R, van der Watt G. Haarburger D, et al. Among authors: van der watt g. Clin Chem. 2013 Aug;59(8):1160-4. doi: 10.1373/clinchem.2012.190710. Clin Chem. 2013. PMID: 23894159 No abstract available.
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Bisschoff M, Smuts I, Dercksen M, Schoonen M, Vorster BC, van der Watt G, Spencer C, Naidu K, Henning F, Meldau S, McFarland R, Taylor RW, Patel K, Fassad MR, Vandrovcova J; ICGNMD Consortium; Wanders RJA, van der Westhuizen FH. Bisschoff M, et al. Among authors: van der watt g. Orphanet J Rare Dis. 2024 Jan 14;19(1):15. doi: 10.1186/s13023-023-03014-8. Orphanet J Rare Dis. 2024. PMID: 38221620 Free PMC article.
A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency.
Meldau S, Ackermann S, Riordan G, van der Watt GF, Spencer C, Raga S, Khan K, Blackhurst DM, van der Westhuizen FH. Meldau S, et al. Among authors: van der watt gf. Mol Genet Metab Rep. 2024 Mar 29;39:101078. doi: 10.1016/j.ymgmr.2024.101078. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38571879 Free PMC article.
28 results