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Select item 107619011.

ScreenPlus: A comprehensive, multi-disorder newborn screening program

Nicole R. Kelly, Joseph J. Orsini, Aaron J. Goldenberg, Niamh S. Mulrooney, Natalie A. Boychuk, Megan J. Clarke, Katrina Paleologos, Monica M. Martin, Hannah McNeight, Michele Caggana, Sean M. Bailey, Lisa R. Eiland, Jaya Ganesh, Gabriel Kupchik, Rishi Lumba, Suhas Nafday, Annemarie Stroustrup, Michael H. Gelb, Melissa P. Wasserstein

Mol Genet Metab Rep. 2024 Mar; 38: 101037. Published online 2023 Dec 14. doi: 10.1016/j.ymgmr.2023.101037

PMCID:: PMC10761901

Abstract Article PDF–369K

Select item 104945092.

A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead

Claire Horgan, Kelly Watts, Dipak Ram, Stewart Rust, Rebekah Hutton, Simon Jones, Rob Wynn

JIMD Rep. 2023 Sep; 64(5): 346–352. Published online 2023 Jun 22. doi: 10.1002/jmd2.12378

PMCID:: PMC10494509

Abstract Article PDF–886K

Select item 103957493.

Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

Xinying Hong, Jessica Daiker, Martin Sadilek, Nicole Ruiz-Schultz, Arun Babu Kumar, Stevie Norcross, Warunee Dansithong, Teryn Suhr, Maria L. Escolar, C. Ronald Scott, Andreas Rohrwasser, Michael H. Gelb

Genet Med. Author manuscript; available in PMC 2023 Aug 2.

Published in final edited form as: Genet Med. 2021 Mar; 23(3): 555–561. Published online 2020 Nov 20. doi: 10.1038/s41436-020-01017-5

PMCID:: PMC10395749

Abstract Article PDF–515K

Select item 103603154.

Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix

Marena Trinidad, Xinying Hong, Steven Froelich, Jessica Daiker, James Sacco, Hong Phuc Nguyen, Madelynn Campagna, Dean Suhr, Teryn Suhr, Jonathan H. LeBowitz, Michael H. Gelb, Wyatt T. Clark

Genome Biol. 2023; 24: 172. Published online 2023 Jul 21. doi: 10.1186/s13059-023-03001-z

PMCID:: PMC10360315

Abstract Article PDF–1.4M

Select item 103329445.

Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy

Lucas Bastian Amedick, Pascal Martin, Judith Beschle, Manuel Strölin, Marko Wilke, Nicole Wolf, Petra Pouwels, Gisela Hagberg, Uwe Klose, Thomas Naegele, Ingeborg Kraegeloh-Mann, Samuel Groeschel

Neuropediatrics. 2023 Aug; 54(4): 244–252. Published online 2023 May 10. doi: 10.1055/a-2073-4178

PMCID:: PMC10332944

Abstract Article PDF–3.0M

Select item 102531186.

Safety and Efficacy of Intravenous and Intrathecal Delivery of AAV9-Mediated ARSA in Minipigs

Aysilu Mullagulova, Alisa Shaimardanova, Valeriya Solovyeva, Yana Mukhamedshina, Daria Chulpanova, Alexander Kostennikov, Shaza Issa, Albert Rizvanov

Int J Mol Sci. 2023 Jun; 24(11): 9204. Published online 2023 May 24. doi: 10.3390/ijms24119204

PMCID:: PMC10253118

Abstract Article PDF–2.6M

Select item 101847407.

Single Systemic Administration of a Gene Therapy Leading to Disease Treatment in Metachromatic Leukodystrophy Arsa Knock-Out Mice

Thia St. Martin, Tania A. Seabrook, Katherine Gall, Jenn Newman, Nancy Avila, April Hayes, Monicah Kivaa, Jason Lotterhand, Michael Mercaldi, Kruti Patel, Israel J. Rivas, Stephen Woodcock, Teresa L. Wright, Albert B. Seymour, Omar L. Francone, Jacinthe Gingras

J Neurosci. 2023 May 10; 43(19): 3567–3581. doi: 10.1523/JNEUROSCI.1829-22.2023

PMCID:: PMC10184740

Abstract Article PDF–3.0M

Select item 98004328.

MR-spectroscopy in metachromatic leukodystrophy: A model free approach and clinical correlation

Joana Feldmann, Pascal Martin, Benjamin Bender, Lucia Laugwitz, Laimdota Zizmare, Christoph Trautwein, Ingeborg Krägeloh-Mann, Uwe Klose, Samuel Groeschel

Neuroimage Clin. 2023; 37: 103296. Published online 2022 Dec 20. doi: 10.1016/j.nicl.2022.103296

PMCID:: PMC9800432

Abstract Article PDF–3.0M

Select item 97353659.

Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy

Daphne H. Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh‐Mann, Saskia Elgün, Benjamin Bender, Marjo S. van der Knaap, Nicole I. Wolf, Samuel Groeschel

Ann Clin Transl Neurol. 2022 Dec; 9(12): 1999–2009. Published online 2022 Nov 5. doi: 10.1002/acn3.51692

PMCID:: PMC9735365

Abstract Article PDF–1.3M

Select item 953146710.

Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy

F. Eichler, Caroline Sevin, M. Barth, F. Pang, K. Howie, M. Walz, A. Wilds, C. Calcagni, C. Chanson, L. Campbell

Orphanet J Rare Dis. 2022; 17: 370. Published online 2022 Oct 4. doi: 10.1186/s13023-022-02518-z

PMCID:: PMC9531467

Abstract Article PDF–1.1M

Select item 931448411.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 889871412.

Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy

Francyne Kubaski, Zackary M. Herbst, Maira Graeff Burin, Kristiane Michelin‐Tirelli, Franciele B. Trapp, Rejane Gus, Alice B. O. Netto, Ana Carolina Brusius‐Facchin, Sandra Leistner‐Segal, Maria Teresa Sanseverino, Carolina Moura Fischinger de Souza, Matheus V. M. B. Wilke, Thiago Oliveira, Jose A. A. Magalhães, Roberto Giugliani

JIMD Rep. 2022 Mar; 63(2): 162–167. Published online 2022 Jan 19. doi: 10.1002/jmd2.12270

PMCID:: PMC8898714

Abstract Article PDF–1.1M

Select item 879507113.

Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access

Francesca Fumagalli, Valeria Calbi, Maria Grazia Natali Sora, Maria Sessa, Cristina Baldoli, Paola Maria V Rancoita, Francesca Ciotti, Marina Sarzana, Maddalena Fraschini, Alberto Andrea Zambon, Serena Acquati, Daniela Redaelli, Vanessa Attanasio, Simona Miglietta, Fabiola De Mattia, Federica Barzaghi, Francesca Ferrua, Maddalena Migliavacca, Francesca Tucci, Vera Gallo, Ubaldo Del Carro, Sabrina Canale, Ivana Spiga, Laura Lorioli, Salvatore Recupero, Elena Sophia Fratini, Francesco Morena, Paolo Silvani, Maria Rosa Calvi, Marcella Facchini, Sara Locatelli, Ambra Corti, Stefano Zancan, Gigliola Antonioli, Giada Farinelli, Michela Gabaldo, Jesus Garcia-Segovia, Laetitia C Schwab, Gerald F Downey, Massimo Filippi, Maria Pia Cicalese, Sabata Martino, Clelia Di Serio, Fabio Ciceri, Maria Ester Bernardo, Luigi Naldini, Alessandra Biffi, Alessandro Aiuti

Lancet. 2022 Jan 22; 399(10322): 372–383. doi: 10.1016/S0140-6736(21)02017-1

PMCID:: PMC8795071

Abstract Article

Select item 852156814.

Treatment of adult metachromatic leukodystrophy model mice using intrathecal administration of type 9 AAV vector encoding arylsulfatase A

Noriko Miyake, Koichi Miyake, Atsushi Sakai, Motoko Yamamoto, Hidenori Suzuki, Takashi Shimada

Sci Rep. 2021; 11: 20513. Published online 2021 Oct 15. doi: 10.1038/s41598-021-99979-2

PMCID:: PMC8521568

Abstract Article PDF–8.8M

Select item 781808715.

Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study

Christine í Dali, Samuel Groeschel, Mihai Moldovan, Mohamed H. Farah, Ingeborg Krägeloh‐Mann, Margaret Wasilewski, Jing Li, Norman Barton, Christian Krarup

Ann Clin Transl Neurol. 2021 Jan; 8(1): 66–80. Published online 2020 Dec 17. doi: 10.1002/acn3.51254

PMCID:: PMC7818087

Abstract Article PDF–1.3M

Select item 748368316.

Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy

Judith Beschle, Michaela Döring, Christiane Kehrer, Christa Raabe, Ute Bayha, Manuel Strölin, Judith Böhringer, Andrea Bevot, Nadja Kaiser, Benjamin Bender, Alexander Grimm, Peter Lang, Ingo Müller, Ingeborg Krägeloh-Mann, Samuel Groeschel

Mol Cell Pediatr. 2020 Dec; 7: 12. Published online 2020 Sep 3. doi: 10.1186/s40348-020-00103-7

PMCID:: PMC7483683

Abstract Article PDF–737K

Select item 733419717.

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel Rhodes, Moriel Singer-Berk, Eleina M. England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce-Hoffman, Zachary Zappala, Anne H. O’Donnell-Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Molly Schleicher, Jose Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Genome Aggregation Database Consortium, Benjamin M. Neale, Mark J. Daly, Daniel G. MacArthur

Nature. 2020; 581(7809): 434–443. Published online 2020 May 27. doi: 10.1038/s41586-020-2308-7