Clinical and genetic features of lysinuric protein intolerance in Japan-Reference-Cited by-同舟云学术

Clinical and genetic features of lysinuric protein intolerance in Japan

Published:2016-06-08 Issue:10 Volume:58 Page:979-983
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Noguchi Atsuko¹,Nakamura Kimitoshi²,Murayama Kei³,Yamamoto Shigenori⁴,Komatsu Hiroshi⁵,Kizu Rika⁶,Takayanagi Masaki⁷,Okuyama Torayuki⁸,Endo Fumio²,Takasago Yuhei⁹,Shoji Yutaka¹⁰,Takahashi Tsutomu¹

Affiliation:

1. Department of Pediatrics; Akita University Graduate School of Medicine; Akita City Akita Japan

2. Department of Pediatrics; Kumamoto University Hospital; Kumamoto City Kumamoto Japan

3. Department of Metabolism; Chiba Children's Hospital; Chiba City Chiba Japan

4. Department of Pediatrics; Chiba University Hospital; Chiba City Chiba Japan

5. Department of Pediatrics; National Hospital Organization Maizuru Medical Center; Maizuru City Kyoto Japan

6. Department of Pediatrics; Yokosuka Kyosai Hospital; Yokosuka City Kanagawa Japan

7. Division of Emergency and General Medicine; Chiba Children's Hospital; Chiba City Chiba Japan

8. National Center for Child Health and Development; Center of Lysosomal storage diseases; Setagaya Tokyo Japan

9. Morioka Children's Hospital; Morioka City Iwate Japan

10. Sakura Pediatric Clinics; Akita City Akita Japan

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.12946/fullpdf

Reference12 articles.

1. Identification of SLC7A7, encoding y + LAT-1, as the lysinuric protein intolerance gene;Torrents;Nat. Genet.,1999

2. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance;Borsani;Nat. Genet.,1999

3. The SLC3 and SLC7 families of amino acid transporters;Fotiadis;Mol. Aspects Med.,2013

4. Lysinuric protein intolerance: Reviewing concepts on a multisystem disease;Sebastio;Am. J. Med. Genet. C Semin. Med. Genet.,2011

5. Lysinuric protein intolerance (LPI): A multi organ disease by far more complex than a classic urea cycle disorder;Ogier de Baulny;Mol. Genet. Metab.,2012

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