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Ryalls, M. R., Gan, H. W., & Davison, J. E. (2021). Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies. Journal of Clinical Research in Pediatric Endocrinology, 13(2), 212.
Ryalls, Michael R., Hoong-Wei Gan, and James E. Davison. "Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies." Journal of Clinical Research in Pediatric Endocrinology 13.2 (2021): 212.
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MR Ryalls, HW Gan, JE Davison - Journal of Clinical Research in …, 2021 - ncbi.nlm.nih.gov

Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies.

STEM and boys

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Excerpt

Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA), primarily in the adrenal cortex and central nervous system. Approximately 35-40% of boys with ALD develop cerebral ALD (CALD), which causes rapidly progressive cerebral demyelination, loss of neurologic function, and death. Approximately 70-80% of boys with ALD have impaired adrenal function prior to the onset of neurologic symptoms. We present a …

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