Literature DB >> 16227114

Genetic counseling issues in urea cycle disorders.

Lisa Sniderman King1, Rani H Singh, William J Rhead, Wendy Smith, Brendan Lee, Marshall L Summar.   

Abstract

The goal of counseling families that have a urea cycle disorder (UCD) is to facilitate the process of scientific understanding, emotional acceptance, and decision-making in a nondirective way. A proper understanding of the genes involved, inheritance patterns, available testing, and complicating factors is critical to serving the families' needs. This article summarizes the needed information, in particular describing the complexities of prenatal testing and counseling issues for each UCD. Included case histories illustrate the genetic counseling process and the decision-making scenarios for two families.

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Year:  2005        PMID: 16227114     DOI: 10.1016/j.ccc.2005.08.001

Source DB:  PubMed          Journal:  Crit Care Clin        ISSN: 0749-0704            Impact factor:   3.598


  7 in total

1.  Determination of mutation patterns in human ornithine transcarbamylase precursor.

Authors:  Shaomin Yan; Guang Wu
Journal:  J Clin Monit Comput       Date:  2009-02-10       Impact factor: 2.502

Review 2.  Urea cycle disorders-update.

Authors:  Shirou Matsumoto; Johannes Häberle; Jun Kido; Hiroshi Mitsubuchi; Fumio Endo; Kimitoshi Nakamura
Journal:  J Hum Genet       Date:  2019-05-20       Impact factor: 3.172

Review 3.  Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.

Authors:  A Cartagena; A N Prasad; C A Rupar; M Strong; M Tuchman; N Ah Mew; C Prasad
Journal:  Can J Neurol Sci       Date:  2013-01       Impact factor: 2.104

4.  Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency.

Authors:  Ogee Mer Panlaqui; Khoa Tran; Amanda Johns; Jim McGill; Hayden White
Journal:  Intensive Care Med       Date:  2008-07-24       Impact factor: 17.440

Review 5.  Suggested guidelines for the diagnosis and management of urea cycle disorders.

Authors:  Johannes Häberle; Nathalie Boddaert; Alberto Burlina; Anupam Chakrapani; Marjorie Dixon; Martina Huemer; Daniela Karall; Diego Martinelli; Pablo Sanjurjo Crespo; René Santer; Aude Servais; Vassili Valayannopoulos; Martin Lindner; Vicente Rubio; Carlo Dionisi-Vici
Journal:  Orphanet J Rare Dis       Date:  2012-05-29       Impact factor: 4.123

Review 6.  Pharmacogenetics of antiepileptic drugs: A brief review.

Authors:  D Parker; E J Sanders; K J Burghardt
Journal:  Ment Health Clin       Date:  2016-03-08

7.  Acute Fulminant Encephalopathy in an Adult due to Ornithine Transcarbamylase Deficiency.

Authors:  Vivek K Nambiar; Aakash Shridharani; Sudheeran Kannoth; Siby Gopinath; Anand Kumar
Journal:  Ann Indian Acad Neurol       Date:  2022-08-04       Impact factor: 1.714

  7 in total

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