First Japanese case of Zellweger syndrome with a mutation inPEX14-Reference-Cited by-同舟云学术

First Japanese case of Zellweger syndrome with a mutation inPEX14

Published:2015-12 Issue:6 Volume:57 Page:1189-1192
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Komatsuzaki Shoko¹²³^ORCID,Ogawa Eishin²,Shimozawa Nobuyuki⁴,Sakamoto Osamu²,Haginoya Kazuhiro²,Uematsu Mitsugu²,Hasegawa Yuki⁵,Matsubara Yoichi¹,Ohura Toshihiro²

Affiliation:

1. Department of Medical Genetics

2. Department of Pediatrics; Tohoku University School of Medicine; Sendai

3. Division of Inborn Metabolic Diseases; University Children's Hospital Heidelberg; Heidelberg Germany

4. Division of Genomics Research, Life Science Research Center; Gifu University; Gifu

5. Department of Pediatrics; Shimane University School of Medicine; Izumo Japan

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.12713/fullpdf

Reference8 articles.

1. Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene;Shimozawa;Hum. Mutat.,2004

2. Identification of a novel PEX14 mutation in Zellweger syndrome;Huybrechts;J. Med. Genet.,2008

3. Excretions of 3,6-epoxydicarboxylic acids in peroxisomal disorders;Pitt;Clin. Chim. Acta,1993

4. Characteristic urine organic acid profile in peroxisomal biogenesis disorders;Korman;J. Inherit. Metab. Dis.,2000

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