Search Results - "Suhr, Dean"

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

“…Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by mutations in the arylsulfatase A gene (ARSA) and categorized into three subtypes…”
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The power of a rare disease count and why an overcount is not helpful by Suhr, Dean

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A proposal to efficiently improve diagnostic clarity, therapeutic and clinical referrals, disease and therapeutic understanding, and quality of life in the newborn screening ecosystem while reducing cost and overhead by Suhr, Dean

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What do researchers, clinicians, industry employees, advocacy leaders, 30 million with rare disease, and 69 million of the general public have in common? by Suhr, Dean

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Measuring sulfatide in blood enables newborn screening for metachromatic leukodystrophy (MLD) by Suhr, Dean

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Newborn Screening - impact of new methods and criteria by Suhr, Dean

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The Open Registry Project as a Tool for Research and Clinical Trials by Suhr, Dean

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RANSIP newborn screening program: Working to bring early diagnostics, inclusion, and therapeutic access to metachromatic leukodystrophy patients by Suhr, Dean, Suhr, Teryn R., Mathiesen, Tara, Therrell, Bradford L.

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Scientific, clinical, social, and policy status and considerations for implementing newborn screening of metachromatic leukodystrophy by Suhr, Dean, Suhr, Teryn R., Gelb, Michael H.

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The evolving and expanding role of patient advocate groups and consortiums of PAGs in research, funding, policy, awareness, and support by Suhr, Dean

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Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies by Adang, Laura A., Sherbini, Omar, Ball, Laura, Bloom, Miriam, Darbari, Anil, Amartino, Hernan, DiVito, Donna, Eichler, Florian, Escolar, Maria, Evans, Sarah H., Fatemi, Ali, Fraser, Jamie, Hollowell, Leslie, Jaffe, Nicole, Joseph, Christopher, Karpinski, Mary, Keller, Stephanie, Maddock, Ryan, Mancilla, Edna, McClary, Bruce, Mertz, Jana, Morgart, Kiley, Langan, Thomas, Leventer, Richard, Parikh, Sumit, Pizzino, Amy, Prange, Erin, Renaud, Deborah L., Rizzo, William, Shapiro, Jay, Suhr, Dean, Suhr, Teryn, Tonduti, Davide, Waggoner, Jacque, Waldman, Amy, Wolf, Nicole I., Zerem, Ayelet, Bonkowsky, Joshua L., Bernard, Genevieve, van Haren, Keith, Vanderver, Adeline

“…Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying…”
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Disease specific therapies in leukodystrophies and leukoencephalopathies by Helman, Guy, Van Haren, Keith, Bonkowsky, Joshua L., Bernard, Genevieve, Pizzino, Amy, Braverman, Nancy, Suhr, Dean, Patterson, Marc C., Ali Fatemi, S., Leonard, Jeff, van der Knaap, Marjo S., Back, Stephen A., Damiani, Stephen, Goldman, Steven A., Takanohashi, Asako, Petryniak, Magdalena, Rowitch, David, Messing, Albee, Wrabetz, Lawrence, Schiffmann, Raphael, Eichler, Florian, Escolar, Maria L., Vanderver, Adeline

“…Leukodystrophies are a heterogeneous, often progressive group of disorders manifesting a wide range of symptoms and complications. Most of these disorders have…”
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Consensus statement on preventive and symptomatic care of leukodystrophy patients by Van Haren, Keith, Bonkowsky, Joshua L., Bernard, Genevieve, Murphy, Jennifer L., Pizzino, Amy, Helman, Guy, Suhr, Dean, Waggoner, Jacque, Hobson, Don, Vanderver, Adeline, Patterson, Marc C.

“…Leukodystrophies are inherited disorders whose primary pathophysiology consists of abnormal deposition or progressive disruption of brain myelin…”
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