Nelson Textbook of Pediatrics 22nd Ed — Section 106.2. Zellweger spectrum (PEX genes), X-linked adrenoleukodystrophy (ABCD1), rhizomelic chondrodysplasia punctata (PEX7), Refsum disease (PHYH). Elevated VLCFA, plasmalogen deficiency, treatment: HSCT for early cerebral ALD, dietary phytanic acid restriction for Refsum.
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