Article
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
Molecular genetics and metabolism - 1 Sept 2017
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
Abstract excerpt
Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The comfort and quality of life of these children is a primary goal that can complement efforts directed at curative therapies....
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