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Article

First Japanese case of Zellweger syndrome with a mutation in PEX14.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Dec 2015

Komatsuzaki Shoko, Ogawa Eishin, Shimozawa Nobuyuki, Sakamoto Osamu, Haginoya Kazuhiro, Uematsu Mitsugu, Hasegawa Yuki, Matsubara Yoichi, Ohura Toshihiro

Abstract excerpt

Zellweger syndrome, one of the peroxisome biogenesis disorders, is an autosomal recessive disease caused by mutations in PEX genes. It is characterized by severe hypotonia, failure to thrive, psychomotor retardation, liver dysfunction, and sensorineural hearing impairment. Most of the patients with this disease die before the age of 1 year. PEX14 is the 13th PEX gene responsible for peroxisome biogenesis...

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Identifiers

PMID: 26627464
DOI: 10.1111/ped.12713

Genes

PEX14

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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First Japanese case of Zellweger syndrome with a mutation in PEX14.PMID 26627464Read ↗

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Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.Semantic proximity Read ↗

Zellweger Syndrome: A Case Report.Semantic proximity Read ↗

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