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Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Mol Genet Metab. 2020 Sep-Oct;131(1-2):135-146. doi: 10.1016/j.ymgme.2020.08.003. Epub 2020 Sep 17.
Mol Genet Metab. 2020.
PMID: 33342467
Free article.
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
Wong SY, Beamer LJ, Gadomski T, Honzik T, Mohamed M, Wortmann SB, Brocke Holmefjord KS, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Ackermann A, Stanley CA, Rymen D, Zeharia A, Al-Sayed M, Marquardt T, Jaeken J, Lefeber D, Conrad DF, Kozicz T, Morava E.
Wong SY, et al. Among authors: brocke holmefjord ks.
J Pediatr. 2016 Aug;175:130-136.e8. doi: 10.1016/j.jpeds.2016.04.021. Epub 2016 May 17.
J Pediatr. 2016.
PMID: 27206562
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Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.
Vaags AK, Bowdin S, Smith ML, Gilbert-Dussardier B, Brocke-Holmefjord KS, Sinopoli K, Gilles C, Haaland TB, Vincent-Delorme C, Lagrue E, Harbuz R, Walker S, Marshall CR, Houge G, Kalscheuer VM, Scherer SW, Minassian BA.
Vaags AK, et al. Among authors: brocke holmefjord ks.
Ann Neurol. 2014 Nov;76(5):758-64. doi: 10.1002/ana.24274. Epub 2014 Oct 4.
Ann Neurol. 2014.
PMID: 25223753
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