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Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing Gonzalez, Carlos A. Dominguez; Spinner, Nancy B.; Ahrens-Nicklas, Rebecca C.; Young, Lisa R.; Voss, Laura A.; Reichert, Sara L.; Gallo, Daniel J.; Cohen, Julie S.; Bonkowsky, Joshua L.; Keller, Stephanie R.; Bennett, Mariko L.; Pizzino, Amy M.; Swantkowski, Meghan; Arnold, Kaley; Fraser, Jamie L.; Emerson, Felicity J.; Miettunen, Kelly; Fatemi, Ali; Haren, Keith P. Van; Adang, Laura; Waldman, Amy; Emrick, Lisa; Eichler, Florian; Vanderver, Adeline Share Save
A Novel Mouse Model for Cerebral Inflammatory Demyelination in X-Linked Adrenoleukodystrophy: Insights into Pathogenesis and Potential Therapeutic Targets Hashemi, Ezzat; Srivastava, Isha N.; Aguirre, Alejandro; Yoseph, Ezra T.; Kaushal, Esha; Awani, Avni; Ryu, Jae K.; Akassoglou, Katerina; Talebian, Shahrzad; Chu, Pauline; Pisani, Laura; Musolino, Patricia; Steinman, Lawrence; Doyle, Kristian; Robinson, William H.; Sharpe, Orr; Cayrol, Romain; Orchard, Paul J.; Lund, Troy; Vogel, Hannes; Lenail, Max; Han, May H.; Bonkowsky, Joshua L.; Van Haren, Keith P. Share Save
Child Neurology: Remarkable Recovery From Severe Acute Necrotizing Encephalopathy Silverman, Andrew; Sasaki, Matthew; Espindola Lima, Jose Eduardo; Cheronis, Chrisoula; Lin, Grant L.; Johnson, Alexandra; Dahmoush, Hisham; Archer, Eva; Grekov, Karolina; Larocca, Thomas J.; Van Haren, Keith Share Save
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy Kornbluh, Alexandra B.; Baldwin, Aaron; Fatemi, Ali; Vanderver, Adeline; Adang, Laura A.; Van Haren, Keith; Sampson, Jacinda; Eichler, Florian S.; Sadjadi, Reza; Engelen, Marc; Orthmann-Murphy, Jennifer L. Share Save
Systemic complications of Aicardi Goutieres syndrome using real-world data de Barcelos, Isabella Peixoto; Jan, Amanda K.; Modesti, Nicholson; Woidill, Sarah; Gavazzi, Francesco; Isaacs, David; D'Aiello, Russell; Sevagamoorthy, Anjana; Charlton, Lauren; Pizzino, Amy; Schmidt, Johanna; van Haren, Keith; Keller, Stephanie; Eichler, Florian; Emrick, Lisa T.; Fraser, Jamie L.; Shults, Justine; Vanderver, Adeline; Adang, Laura A. Share Save
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy Adang, Laura Ann; Groeschel, Samuel; Grzyb, Chloe; D'Aiello, Russell; Gavazzi, Francesco; Sherbini, Omar; Bronner, Nowa; Patel, Akshilkumar; Vincent, Ariel; Sevagamoorthy, Anjana; Mutua, Sylvia; Muirhead, Kayla; Schmidt, Johanna; Pizzino, Amy; Yu, Emily; Jin, Danielle; Eichler, Florian; Fraser, Jamie L.; Emrick, Lisa; Van Haren, Keith; Boulanger, Jean-Martin; Ruzhnikov, Maura; Sylvain, Michel; Nguyen, Cam-Tu Emilie; Potic, Ana; Keller, Stephanie; Fatemi, Ali; Uebergang, Eloise; Poe, Michele; Yazdani, Pouneh Amir; Bernat, John; Lindstrom, Kristen; Bonkowsky, Joshua L.; Bernard, Genevieve; Stutterd, Chloe A.; Orchard, Paul; Gupta, Ashish O.; Ljungberg, Merete; Groenborg, Sabine; Zambon, Alberto; Locatelli, Sara; Fumagalli, Francesca; Elguen, Saskia; Kehrer, Christiane; Krageloh-Mann, Ingeborg; Shults, Justine; Vanderver, Adeline; Escolar, Maria L. Share Save
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States Adang, Laura A.; Bonkowsky, Joshua L.; Boelens, Jaap Jan; Mallack, Eric; Ahrens-Nicklas, Rebecca; Bernat, John A.; Bley, Annette; Burton, Barbara; Darling, Alejandra; Eichler, Florian; Eklund, Erik; Emrick, Lisa; Escolar, Maria; Fatemi, Ali; Fraser, Jamie L.; Gaviglio, Amy; Keller, Stephanie; Patterson, Marc C.; Orchard, Paul; Orthmann-Murphy, Jennifer; Santoro, Jonathan D.; Schoels, Ludger; Sevin, Caroline; Srivastava, Isha N.; Rajan, Deepa; Rubin, Jennifer P.; Van Haren, Keith; Wasserstein, Melissa; Zerem, Ayelet; Fumagalli, Francesca; Laugwitz, Lucia; Vanderver, Adeline Share Save
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach Adang, Laura Ann; Sevagamoorthy, Anjana; Sherbini, Omar; Fraser, Jamie L.; Bonkowsky, Joshua L.; Gavazzi, Francesco; D'Aiello, Russel; Modesti, Nicholson B.; Yu, Emily; Mutua, Sylvia; Kotes, Emma; Shults, Justine; Vincent, Ariel; Emrick, Lisa T.; Keller, Stephanie; Haren, Keith P. Van; Woidill, Sarah; Barcelos, Isabella; Pizzino, Amy; Schmidt, Johanna L.; Eichler, Florian; Fatemi, Ali; Vanderver, Adeline Share Save
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A Phase 1 Study of Oral Vitamin D3 in Boys and Young Men With X-Linked Adrenoleukodystrophy Van Haren, Keith P.; Cunanan, Kristen; Awani, Avni; Gu, Meng; Pena, Dalia; Chromik, Lindsay C.; Povazan, Michal; Rossi, Nicole C.; Goodman, Jordan; Sundaram, Vandana; Winterbottom, Jennifer; Raymond, Gerald, V; Cowan, Tina; Enns, Gregory M.; Waubant, Emmanuelle; Steinman, Lawrence; Barker, Peter B.; Spielman, Daniel; Fatemi, Ali Share Save
Developmental delay can precede neurologic regression in metachromatic leukodystrophy Adang, Laura A.; Groeschel, Samuel; Grzyb, Chloe; Eichler, Florian S.; Fraser, Jamie L.; Emrick, Lisa; Van Haren, Keith; Keller, Stephanie; Poe, Michele; Bernat, John; Bonkowsky, Joshua L.; Bernard, Genevieve; Stutterd, Chloe; Orchard, Paul J.; Gupta, Ashish; Ljungberg, Merete; Gronborg, Sabine; Fumagalli, Francesca; Elgun, Saskia; Kehrer, Christiane; Shults, Justine; Vanderver, Adeline; Escolar, Maria L. Share Save
Pulmonological issues Perez, Geovanny; Young, Lisa; Kravitz, Richard; Sheehan, Daniel; Adang, Laura; Van Haren, Keith; Lin, Jody L.; Jaffe, Nicole Nikki; Kuo, Dennis; Ball, Laura; Keller, Jennifer; Sank, Jeffrey; DiVito, Donna; Naime, Samira Share Save
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy A Consensus-Based Approach Engelen, Marc; Van Ballegoij, Wouter J. C.; Mallack, Eric James; Van Haren, Keith P.; Kohler, Wolfgang; Salsano, Ettore; Van Trotsenburg, A. S. P.; Mochel, Fanny; Sevin, Caroline; Regelmann, Molly O.; Tritos, Nicholas A.; Halper, Alyssa; Lachmann, Robin H.; Davison, James; Raymond, Gerald V.; Lund, Troy C.; Orchard, Paul J.; Kuehl, Joern-Sven; Lindemans, Caroline A.; Caruso, Paul; Turk, Bela Rui; Moser, Ann B.; Vaz, Frederic M.; Ferdinandusse, Sacha; Kemp, Stephan; Fatemi, Ali; Eichler, Florian S.; Huffnagel, Irene C. Share Save
Peripheral T-Cells, B-Cells, and Monocytes from Multiple Sclerosis Patients Supplemented with High-Dose Vitamin D Show Distinct Changes in Gene Expression Profiles Kim, Dohyup; Witt, Emily E.; Schubert, Simone; Sotirchos, Elias; Bhargava, Pavan; Mowry, Ellen M.; Sachs, Karen; Bilen, Biter; Steinman, Lawrence; Awani, Avni; He, Zihuai; Calabresi, Peter A.; Van Haren, Keith Share Save
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Acute flaccid myelitis: cause, diagnosis, and management Murphy, Olwen C.; Messacar, Kevin; Benson, Leslie; Bove, Riley; Carpenter, Jessica L.; Crawford, Thomas; Dean, Janet; DeBiasi, Roberta; Desai, Jay; Elrick, Matthew J.; Farias-Moeller, Raquel; Gombolay, Grace Y.; Greenberg, Benjamin; Harmelink, Matthew; Hong, Sue; Hopkins, Sarah E.; Oleszek, Joyce; Otten, Catherine; Sadowsky, Cristina L.; Schreiner, Teri L.; Thakur, Kiran T.; Van Haren, Keith; Carballo, Carolina M.; Chong, Pin Fee; Fall, Amary; Gowda, Vykuntaraju K.; Helfferich, Jelte; Kira, Ryutaro; Lim, Ming; Lopez, Eduardo L.; Wells, Elizabeth M.; Yeh, E. Ann; Pardo, Carlos A. Share Save
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