Literature DB >> 36147420

Citrullinemia, a rare cause of recurring encephalopathy.

J N Goswami1, A K Simalti2, Atul Mishra3.   

Abstract

An infant presented with recurrent episodes of encephalopathy, responding to nonspecific management of sepsis. High index of suspicion helped uncover underlying error of metabolism.
© 2020 Director General, Armed Forces Medical Services. Published by Elsevier, a division of RELX India Pvt. Ltd.

Entities:  

Keywords:  Citrullinemia; Metabolic encephalopathy; Urea cycle defect

Year:  2020        PMID： 36147420      PMCID： PMC9485739          DOI： 10.1016/j.mjafi.2019.12.007

Source DB:  PubMed          Journal:  Med J Armed Forces India        ISSN： 0377-1237


  9 in total

1.  Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile.

Authors:  Eimei Harada; Atsushi Nishiyori; Yasuyuki Tokunaga; Yoriko Watanabe; Norikazu Kuriya; Ryukichi Kumashiro; Tateo Kuno; Ryuichi Kuromaru; Shinichi Hirose; Kotaro Ichikawa; Makoto Yoshino
Journal:  Pediatr Int       Date:  2006-04       Impact factor: 1.524

2.  Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy.

Authors:  Andrea L Gropman
Journal:  Mol Genet Metab       Date:  2005 Sep-Oct       Impact factor: 4.797

Review 3.  Challenges in diagnosing and managing adult patients with urea cycle disorders.

Authors:  Karolina M Stepien; Tarekegn Geberhiwot; Christian J Hendriksz; Eileen P Treacy
Journal:  J Inherit Metab Dis       Date:  2019-05-08       Impact factor: 4.982

4.  Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation.

Authors:  Claude Bachmann
Journal:  Eur J Pediatr       Date:  2003-03-27       Impact factor: 3.183

Review 5.  Urea cycle defects: management and outcome.

Authors:  M C Nassogne; B Héron; G Touati; D Rabier; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

Review 6.  Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.

Authors:  Johannes Häberle; Alberto Burlina; Anupam Chakrapani; Marjorie Dixon; Daniela Karall; Martin Lindner; Hanna Mandel; Diego Martinelli; Guillem Pintos-Morell; René Santer; Anastasia Skouma; Aude Servais; Galit Tal; Vicente Rubio; Martina Huemer; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2019-05-15       Impact factor: 4.982

7.  Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis.

Authors:  N E Maestri; D Clissold; S W Brusilow
Journal:  J Pediatr       Date:  1999-03       Impact factor: 4.406

8.  Late-Onset Citrullinemia Type I: A Radiological Mimic of Herpes Encephalitis.

Authors:  Razia A Kadwa; Naveen Sankhyan; Chirag K Ahuja; Pratibha Singhi
Journal:  J Pediatr Neurosci       Date:  2019 Jan-Mar

9.  Magnetic resonance imaging findings and neurodevelopmental outcomes in neonates with urea-cycle defects.

Authors:  Anna Catherine Gunz; Karen Choong; Murray Potter; Elka Miller
Journal:  Int Med Case Rep J       Date:  2013-08-19
  9 in total

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