977 results for Metachromatic+leukodystrophy

977 results for Metachromatic+leukodystrophy

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    Author / Creator:Chang, Shun-Chiao ; Bergamasco, Aurore ; Bonnin, Mélanie ; Bisonó, Teigna Arredondo ; Moride, Yola
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.80-80, Article 80
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    Author / Creator:Kurtzberg, Joanne
    Publisher:England: Elsevier Ltd
    Journal title:The Lancet (British edition), 2022-01, Vol.399 (10322), p.338-339
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    Author / Creator:Trinidad, Marena ; Hong, Xinying ; Froelich, Steven ; Daiker, Jessica ; Sacco, James ; Nguyen, Hong Phuc ; Campagna, Madelynn ; Suhr, Dean ; Suhr, Teryn ; LeBowitz, Jonathan H. ; Gelb, Michael H. ; Clark, Wyatt T.
    Publisher:England: BioMed Central Ltd
    Journal title:Genome Biology, 2023-07, Vol.24 (1), p.172-172, Article 172
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    Author / Creator:van Rappard, Diane F. ; Königs, Marsh ; Steenweg, Marjan E. ; Boelens, Jaap Jan ; Oosterlaan, Jaap ; van der Knaap, Marjo S. ; Wolf, Nicole I. ; Pouwels, Petra J. W.
    Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
    Journal title:Journal of neurology, 2018-03, Vol.265 (3), p.659-668
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    Author / Creator:Hong, Xinying ; Daiker, Jessica ; Sadilek, Martin ; Ruiz-Schultz, Nicole ; Kumar, Arun Babu ; Norcross, Stevie ; Dansithong, Warunee ; Suhr, Teryn ; Escolar, Maria L. ; Ronald Scott, C. ; Rohrwasser, Andreas ; Gelb, Michael H.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2021-03, Vol.23 (3), p.555-561
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    Author / Creator:Hammoud, Miloud ; Domínguez-Ruiz, María ; Assiri, Imane ; Rodrigues, Daniel ; Aboussair, Nisrine ; Lanza, Val F. ; Villarrubia, Jesús ; Colón, Cristóbal ; Fdil, Naima ; del Castillo, Francisco J.
    Publisher:Switzerland: MDPI AG
    Journal title:Genes, 2024-12, Vol.15 (12), p.1515
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    Author / Creator:Kehrer, Christiane ; Bevot, Andrea ; Martin, Pascal ; Raabe, Christa ; Gregor, Saskia ; Krägeloh-Mann, Ingeborg ; Groeschel, Samuel
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2025-05, Vol.20 (1), p.242-17, Article 242
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    Author / Creator:Boucher, Alexander A. ; Miller, Weston ; Shanley, Ryan ; Ziegler, Richard ; Lund, Troy ; Raymond, Gerald ; Orchard, Paul J.
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2015-08, Vol.10 (1), p.94-94, Article 94
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    Author / Creator:Ataei, Zahra ; Nouri, Zahra ; Tavakoli, Farial ; Pourreza, Mohammad Reza ; Narrei, Sina ; Tabatabaiefar, Mohammad Amin
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2023-02, Vol.18 (2), p.e0282304-e0282304
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    Author / Creator:Penati, Rachele ; Fumagalli, Francesca ; Calbi, Valeria ; Bernardo, Maria Ester ; Aiuti, Alessandro
    Publisher:Dordrecht: Springer Netherlands
    Journal title:Journal of inherited metabolic disease, 2017-07, Vol.40 (4), p.543-554
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    Author / Creator:Sevin, Caroline ; Barth, Magalie ; Wilds, Alexandra ; Afriyie, Abena ; Walz, Markus ; Dillon, Annamarie ; Howie, Kenneth ; Pang, Francis
    Publisher:London: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2022-09, Vol.17 (1), p.1-329, Article 329
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    Author / Creator:Biffi, Alessandra ; Capotondo, Alessia ; Fasano, Stefania ; Carro, Ubaldo del ; Marchesini, Sergio ; Azuma, Hisaya ; Malaguti, Maria Chiara ; Amadio, Stefano ; Brambilla, Riccardo ; Grompe, Markus ; Bordignon, Claudio ; Quattrini, Angelo ; Naldini, Luigi
    Publisher:United States: American Society for Clinical Investigation
    Journal title:The Journal of clinical investigation, 2006-11, Vol.116 (11), p.3070-3082
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    Author / Creator:Eichler, F. ; Sevin, Caroline ; Barth, M. ; Pang, F. ; Howie, K. ; Walz, M. ; Wilds, A. ; Calcagni, C. ; Chanson, C. ; Campbell, L.
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.370-19, Article 370
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    Author / Creator:Amba, Prashant ; Wilson, Vinny ; Hosur, Bharat
    Publisher:Mumbai: Wolters Kluwer India Pvt. Ltd
    Journal title:Neurology India, 2023-07, Vol.71 (4), p.853-854
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    Author / Creator: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.
    Publisher:London: Nature Publishing Group UK
    Journal title:Scientific reports, 2021-07, Vol.11 (1), p.14486-17, Article 14486
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    Author / Creator:Beerepoot, Shanice ; Schoenmakers, Daphne H ; van der Knaap, Marjo S ; Wolf, Nicole I
    Publisher:Netherlands: Elsevier B.V
    Journal title:Clinical neurology and neurosurgery, 2023-05, Vol.228, p.107696-107696, Article 107696
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    Author / Creator:Mullard, Asher
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature reviews. Drug discovery, 2024-05, Vol.23 (5), p.328-328
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    Author / Creator:Spacil, Zdenek ; Babu Kumar, Arun ; Liao, Hsuan-Chieh ; Auray-Blais, Christiane ; Stark, Samantha ; Suhr, Teryn R ; Scott, C Ronald ; Turecek, Frantisek ; Gelb, Michael H
    Publisher:England: Oxford University Press
    Journal title:Clinical chemistry (Baltimore, Md.), 2016-01, Vol.62 (1), p.279-286
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    Author / Creator:Harrington, Magdalena ; Whalley, Diane ; Twiss, James ; Rushton, Rebecca ; Martin, Susan ; Huynh, Lynn ; Yang, Hongbo
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.89-89, Article 89
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    Author / Creator:Schoenmakers, Daphne H. ; Mochel, Fanny ; Adang, Laura A. ; Boelens, Jaap-Jan ; Calbi, Valeria ; Eklund, Erik A. ; Grønborg, Sabine W. ; Fumagalli, Francesca ; Groeschel, Samuel ; Lindemans, Caroline ; Sevin, Caroline ; Schöls, Ludger ; Ram, Dipak ; Zerem, Ayelet ; Graessner, Holm ; Wolf, Nicole I.
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.46-46, Article 46
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