Literature DB >> 463551

Nonketotic hyperglycinemia. Clinical, biochemical and therapeutic aspects.

S Kølvraa, N J Brandt, E Christensen.   

Abstract

A patient exhibiting progressive cerebral depression from the first days of life is described. The diagnosis of nonketotic hyperglycinemia was established on the typical clinical presentation, elevated glycine concentrations in body fluids and diminished glycine cleavage activity in liver tissue. A series of therapeutic trials, including strychnine treatment, was tried on this patient without apparent effect on the clinical course.

Entities:  

Mesh:

Substances:

Year:  1979        PMID: 463551     DOI: 10.1111/j.1651-2227.1979.tb05072.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN: 0001-656X


  2 in total

Review 1.  Non-ketotic hyperglycinaemia: clinical and biochemical aspects.

Authors:  K Tada; K Hayasaka
Journal:  Eur J Pediatr       Date:  1987-05       Impact factor: 3.183

2.  Normal glycine transport in cultured diploid fibroblasts from hyperglycinaemic subjects.

Authors:  S Kølvraa; F Rosleff; N J Brandt
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.