Novel Mutations (H337R and 238–362del) in the <i>CPS1</i> Gene Cause Carbamoyl Phosphate Synthetase I Deficiency

Abstract

Case Reports| July 26 2001 Novel Mutations (H337R and 238–362del) in the CPS1 Gene Cause Carbamoyl Phosphate Synthetase I Deficiency Subject Area: Genetics Tsutomu Aoshima; Tsutomu Aoshima aDepartment of Pediatrics, Nagoya University School of Medicine and Search for other works by this author on: This Site PubMed Google Scholar Mitsuharu Kajita; Mitsuharu Kajita aDepartment of Pediatrics, Nagoya University School of Medicine and Search for other works by this author on: This Site PubMed Google Scholar Yoshitaka Sekido; Yoshitaka Sekido bDepartment of Clinical Preventive Medicine, Nagoya University Daiko Medical Center, Nagoya, Search for other works by this author on: This Site PubMed Google Scholar Satoshi Kikuchi; Satoshi Kikuchi cDepartment of Pediatrics, Biyou Public Hospital, Nagoya, Search for other works by this author on: This Site PubMed Google Scholar Izumi Yasuda; Izumi Yasuda dDepartment of Biochemistry I, Kagoshima University School of Medicine, Kagoshima, Japan Search for other works by this author on: This Site PubMed Google Scholar Takeyori Saheki; Takeyori Saheki dDepartment of Biochemistry I, Kagoshima University School of Medicine, Kagoshima, Japan Search for other works by this author on: This Site PubMed Google Scholar Kazuyoshi Watanabe; Kazuyoshi Watanabe aDepartment of Pediatrics, Nagoya University School of Medicine and Search for other works by this author on: This Site PubMed Google Scholar Kaoru Shimokata; Kaoru Shimokata bDepartment of Clinical Preventive Medicine, Nagoya University Daiko Medical Center, Nagoya, Search for other works by this author on: This Site PubMed Google Scholar Toshimitsu Niwa Toshimitsu Niwa bDepartment of Clinical Preventive Medicine, Nagoya University Daiko Medical Center, Nagoya, Search for other works by this author on: This Site PubMed Google Scholar Hum Hered (2001) 52 (2): 99–101. https://doi.org/10.1159/000053360 Article history Published Online: July 26 2001 Content Tools Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Facebook Twitter LinkedIn Email Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation Tsutomu Aoshima, Mitsuharu Kajita, Yoshitaka Sekido, Satoshi Kikuchi, Izumi Yasuda, Takeyori Saheki, Kazuyoshi Watanabe, Kaoru Shimokata, Toshimitsu Niwa; Novel Mutations (H337R and 238–362del) in the CPS1 Gene Cause Carbamoyl Phosphate Synthetase I Deficiency. Hum Hered 1 July 2001; 52 (2): 99–101. https://doi.org/10.1159/000053360 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search Dropdown Menu toolbar search search input Search input auto suggest filter your search All ContentAll JournalsHuman Heredity Search Advanced Search Article PDF first page preview Close Modal Keywords: Mutation, Carbamoyl phosphate synthetase I deficiency, Hyperammonemia, Urea cycle 2001Copyright / Drug Dosage / DisclaimerCopyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. You do not currently have access to this content.