Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

Males with X‐linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic variants in ABCD1 result in elevated levels of very long‐chain fatty acids (VLCFA), including C26:0‐lysophosphatidylcholin...

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Detalles Bibliográficos
Autores principales: Albersen, Monique, van der Beek, Samantha L., Dijkstra, Inge M. E., Alders, Mariëlle, Barendsen, Rinse W., Bliek, Jet, Boelen, Anita, Ebberink, Merel S., Ferdinandusse, Sacha, Goorden, Susan M. I., Heijboer, Annemieke C., Jansen, Mandy, Jaspers, Yorrick R. J., Metgod, Ingrid, Salomons, Gajja S., Vaz, Frédéric M., Verschoof‐Puite, Rendelien K., Visser, Wouter F., Dekkers, Eugènie, Engelen, Marc, Kemp, Stephan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092852/
https://www.ncbi.nlm.nih.gov/pubmed/36256460
http://dx.doi.org/10.1002/jimd.12571

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