peroxisomal disorders/gin diare

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Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder.

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This article describes two siblings with infantile Refsum disease (IRD) whose initial presentation was that of malabsorption and mimicked a-beta- or homozygous hypo-beta-lipoproteinemia. Failure to recognize IRD in the first-born child precluded proper genetic counseling and prenatal diagnosis in

A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy.

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OBJECTIVE We report a novel presentation of childhood cerebral X-linked adrenoleukodystrophy: status epilepticus followed by abrupt and catastrophic neurologic deterioration. METHODS A description of the clinical presentation, laboratory evaluation, and imaging findings leading to a diagnosis of

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