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Case Reports
. 2019 Dec;45(7):732-735.
doi: 10.1111/nan.12557. Epub 2019 Jun 10.

First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene

K B Larsen  1   2 , A Bayat  3   4 , R S Møller  4   5 , L L Maroun  1 , E L Lund  1
Affiliations
Case Reports

First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene

K B Larsen et al. Neuropathol Appl Neurobiol. 2019 Dec.
No abstract available

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Comment in

  • Leukodystrophy as a feature of PIGT-CDG.
    Larsen KB, Lund EL. Larsen KB, et al. Neuropathol Appl Neurobiol. 2020 Oct;46(6):617. doi: 10.1111/nan.12600. Epub 2020 May 4. Neuropathol Appl Neurobiol. 2020. PMID: 31998980 No abstract available.
  • Is leucodystrophy really a feature of PIGT-CDG?
    Mierzewska H, Jezela-Stanek A. Mierzewska H, et al. Neuropathol Appl Neurobiol. 2020 Oct;46(6):615-616. doi: 10.1111/nan.12609. Epub 2020 Mar 19. Neuropathol Appl Neurobiol. 2020. PMID: 32058618 No abstract available.

References

    1. Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, et al. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab 2015; 114: 494-500. https://doi.org/10.1016/j.ymgme.2015.01.006
    1. Jaeken J, Péanne R. What is new in CDG? J Inherit Metab Dis 2017; 40: 569-86. https://doi.org/10.1007/s10545-017-0050-6
    1. Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, et al. Congenital disorders of glycosylation (CDG): Quo vadis? Eur J Med Genet 2018; 61: 643-63. https://doi.org/10.1016/j.ejmg.2017.10.012
    1. Eklund EA, Sun L, Westphal V, Northrop JL, Freeze HH, Scaglia F. Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology. J Pediatr 2005; 147: 847-50
    1. Ohishi K, Inoue N, Kinoshita T. PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8. EMBO J 2001; 20: 4088-98

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