Literature DB >> 20182220

Protracted cortical visual loss in a child with ornithine transcarbamylase deficiency.

Jennifer M Anderson, Michael C Brodsky.   

Abstract

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Year:  2010        PMID： 20182220     DOI： 10.1097/WNO.0b013e3181c5d09c

Source DB:  PubMed          Journal:  J Neuroophthalmol        ISSN： 1070-8022            Impact factor:   3.042


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  4 in total

1.  Urea cycle disorders: brain MRI and neurological outcome.

Authors:  William R Bireley; Johan L K Van Hove; Renata C Gallagher; Laura Z Fenton
Journal:  Pediatr Radiol       Date:  2011-10-12

2.  Transient Cortical Blindness in a Toddler With Heterozygous Ornithine Transcarbamylase Deficiency.

Authors:  Peter N Eskander; Sara S Romani
Journal:  Cureus       Date:  2021-11-30

Review 3.  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

4.  Multimodal imaging in urea cycle-related neurological disease - What can imaging after hyperammonemia teach us?

Authors:  Kuntal Sen; Matthew T Whitehead; Andrea L Gropman
Journal:  Transl Sci Rare Dis       Date:  2020-08-03
  4 in total

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