International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach

Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by 3 core clinical syndromes: a slowly progressive myeloneuropathy, a rapidly progressive inflammatory leukodystrophy (cerebral ALD), and primary adrenal insufficiency. These syndro...

Descripción completa

Detalles Bibliográficos
Autores principales: Engelen, Marc, van Ballegoij, Wouter J.C., Mallack, Eric James, Van Haren, Keith P., Köhler, 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, Frédéric M., Ferdinandusse, Sacha, Kemp, Stephan, Fatemi, Ali, Eichler, Florian S., Huffnagel, Irene C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Contemporary Issues in Practice, Education, & Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9687408/
https://www.ncbi.nlm.nih.gov/pubmed/36175155
http://dx.doi.org/10.1212/WNL.0000000000201374

Ejemplares similares

Ejemplares similares