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