Related Products of 56-06-4, The transformation of simple hydrocarbons into more complex and valuable products via catalytic C¨CH bond functionalisation has revolutionised modern synthetic chemistry. 56-06-4, Name is 2,6-Diaminopyrimidin-4(1H)-one, SMILES is O=C1N=C(N)NC(N)=C1, belongs to pyrimidines compound. In a article, author is Zhou, Ling, introduce new discover of the category.
Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency
We present two unrelated Chinese patients with CAD deficiency manifesting with a triad of infantile-onset psychomotor developmental delay with regression, drug-refractory epilepsy, and anaemia with anisopoikilocytosis. Timely translation into uridine supplementation, within 2-months of disease onset, allowed us to stop conventional anti-epileptic drugs and led to dramatic improvement in the clinical symptoms, with prompt cessation of seizures, resolution of anaemia, developmental progress, and prevention of development of severe and non-reversible manifestations. The remarkable recovery and prevention of advanced disease with prompt treatment, highlights the need to act immediately upon genetic diagnosis of a treatable disease. This further reinforces CAD deficiency as a treatable neurometabolic disorder and emphasises the need for a biomarker or genetic new born screening for early identification.
Related Products of 56-06-4, Each elementary reaction can be described in terms of its molecularity, the number of molecules that collide in that step. The slowest step in a reaction mechanism is the rate-determining step.you can also check out more blogs about 56-06-4.
Reference:
Pyrimidine | C4H4N2 – PubChem,
,Pyrimidine – Wikipedia