Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 1 of 1 entries
Sorted by: Best Match Show Resources per page
Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia.

Journal of inherited metabolic disease

Neuberger JM, Schweitzer S, Rolland MO, Burghard R.
PMID: 10682305
J Inherit Metab Dis. 2000 Feb;23(1):22-6. doi: 10.1023/a:1005642728513.

A 6-month-old girl presented with hypotonia and mild psychomotor retardation. Subsequently, an atypical manifestation of a nonketotic hyperglycinaemia was diagnosed, confirmed by significantly reduced activity of the glycine cleavage system in the liver tissue. After the patient developed hypsarrhythmia...

Showing 1 to 1 of 1 entries