Literature DB >> 456388

Complicated optic atrophy (Bher's disease) associated with epilepsy and amino acid imbalance.

F Monaco, A Pirisi, G P Sechi, R Mutani.   

Abstract

A case of Behr's disease (complicated optic atrophy) associated with epilepsy and with imbalance of the free amino acid pool in plasma and cerebrospinal fluid, quite similar to that identified in patients with hereditary ataxias, is reported. The latter finding stands for a closer correlation between the two clinical entities.

Entities:  

Mesh:

Substances:

Year:  1979        PMID: 456388     DOI: 10.1159/000115062

Source DB:  PubMed          Journal:  Eur Neurol        ISSN: 0014-3022            Impact factor:   1.710


  2 in total

Review 1.  Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.

Authors:  Bayan Al Othman; Jia Ern Ong; Alina V Dumitrescu
Journal:  Genes (Basel)       Date:  2022-06-02       Impact factor: 4.141

2.  Huntington's disease - imbalance of free amino acids in the cerebrospinal fluid of patients and offspring at-risk.

Authors:  G Oepen; H Cramer; R Bernasconi; P Martin
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1982
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.