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ODP310 Early Onset Adrenal Dysfunction in Infants with Adrenoleukodystrophy

INTRODUCTION: X-linked adrenoleukodystrophy (ALD) is caused by mutations in the ABCD1 gene encoding the adrenoleukodystrophy protein that transports very-long-chain fatty acids (VLCFAs) to peroxisomes for degradation. An early manifestation is primary adrenal insufficiency (AI). Our clinic's pr...

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Detalles Bibliográficos
Autores principales: Patel, Sruti, Raynes, Hillary, Diaz, George, Rapaport, Robert, Yau, Mabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625228/
http://dx.doi.org/10.1210/jendso/bvac150.1236