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Article

Acute intermittent porphyria-related leukoencephalopathy.

Neurology - 20 Sept 2016

Kevelam Sietske H, Neeleman Rochus A, Waisfisz Quinten, Friesema Edith C H, Langendonk Janneke G, van der Knaap Marjo S

Abstract excerpt

OBJECTIVE: To identify the genetic etiology of a distinct leukoencephalopathy with autosomal recessive inheritance in a single family. METHODS: We analyzed available MRIs and retrospectively reviewed clinical information and laboratory investigations. We performed whole-exome sequencing to find the causal gene variants. RESULTS: We identified 3 family members with a similar MRI pattern characterized by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27558376
DOI: 10.1212/WNL.0000000000003129

Genes

HMBS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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