Works matching DE "METACHROMATIC leukodystrophy"

Results: 167
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    Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature.

    Published in:
    Bone Marrow Transplantation, 2011, v. 46, n. 8, p. 1071, doi. 10.1038/bmt.2010.252
    By:
    • de Hosson, L. D.;
    • van de Warrenburg, B. P. C.;
    • Preijers, F. W. M. B.;
    • Blijlevens, N. M. A.;
    • van der Reijden, B. A.;
    • Kremer, H. P. H.;
    • Lefeber, D. J.;
    • Allebes, W. A.;
    • Al-Ali, H.;
    • Niederwieser, D. W.;
    • Schaap, N. P. M.;
    • Schattenberg, A. V. M. B.
    Publication type:
    Article
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    C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

    Published in:
    Nature Genetics, 2007, v. 39, n. 9, p. 1068, doi. 10.1038/ng2082
    By:
    • Richards, Anna;
    • van den Maagdenberg, Arn M. J. M.;
    • Jen, Joanna C.;
    • Kavanagh, David;
    • Bertram, Paula;
    • Spitzer, Dirk;
    • Liszewski, M. Kathryn;
    • Barilla-LaBarca, Maria-Louise;
    • Terwindt, Gisela M.;
    • Kasai, Yumi;
    • McLellan, Mike;
    • Grand, Mark Gilbert;
    • Vanmolkot, Kaate R. J.;
    • de Vries, Boukje;
    • Jijun Wan;
    • Kane, Michael J.;
    • Mamsa, Hafsa;
    • Schäfer, Ruth;
    • Stam, Anine H.;
    • Haan, Joost
    Publication type:
    Article
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    Galectin-4 and sulfatides in apical membrane trafficking in enterocyte-like cells.

    Published in:
    Journal of Cell Biology, 2005, v. 169, n. 3, p. 491, doi. 10.1083/jcb.200407073
    By:
    • Delacour, Delphine;
    • Gouyer, Valérie;
    • Zanetta, Jean-Pierre;
    • Drobecq, Hervé;
    • Leteurtre, Emmanuelle;
    • Grard, Georges;
    • Moreau-Hannedouche, Odile;
    • Maes, Emmanuel;
    • Pons, Alexandre;
    • André, Sabine;
    • Le Bivic, André;
    • Gabius, Hans Joachim;
    • Manninen, Aki;
    • Simons, Kai;
    • Huet, Guillemette
    Publication type:
    Article
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    Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-93601-1
    By:
    • Babcock, Michael C.;
    • Mikulka, Christina R.;
    • Wang, Bing;
    • Chandriani, Sanjay;
    • Chandra, Sundeep;
    • Xu, Yue;
    • Webster, Katherine;
    • Feng, Ying;
    • Nelvagal, Hemanth R.;
    • Giaramita, Alex;
    • Yip, Bryan K.;
    • Lo, Melanie;
    • Jiang, Xuntian;
    • Chao, Qi;
    • Woloszynek, Josh C.;
    • Shen, Yuqiao;
    • Bhagwat, Shripad;
    • Sands, Mark S.;
    • Crawford, Brett E.
    Publication type:
    Article
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    Intrathecal baclofen in metachromatic leukodystrophy.

    Published in:
    2019
    By:
    • Veldt, Nikki;
    • Rappard, Diane F;
    • Pol, Laura A;
    • Knaap, Marjo S;
    • Ouwerkerk, Willem J R;
    • Becher, Jules G;
    • Wolf, Nicole I;
    • Buizer, Annemieke I;
    • van der Veldt, Nikki;
    • van Rappard, Diane F;
    • van de Pol, Laura A;
    • van der Knaap, Marjo S;
    • van Ouwerkerk, Willem J R
    Publication type:
    Case Study
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