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Débora Tonelotto

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Aug 2026

Thirty-three years of X-linked adrenoleukodystrophy diagnosis at a Brazilian reference center: diagnostic patterns and key findings.

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. Although the quantification of very long-chain fatty acids (VLCFA) is an old technique implemented to diagnose and monitor, the limited number of experienced clinical biochemists in this field and also the limited availability of technical r...

Ana Kalise Böttcher, Ana Luiza da Silveira Pereira, Débora Tonelotto et al. · 0 citations

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