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ALLMedicine™ Adenylosuccinase Deficiency Center

Research & Reviews  2 results

Adenylosuccinase deficiency
https://rarediseases.info.nih.gov/diseases/550/adenylosuccinase-deficiency

Jul 8th, 2020 - Adenylosuccinase deficiency impacts the way the body breaks down certain chemicals and results in damage to the nervous system. There are several types of adenylosuccinase deficiency. Symptoms vary greatly from person to person. In general, adenyl...

Cerebellar hypoplasia: differential diagnosis and diagnostic approach.
https://doi.org/10.1002/ajmg.c.31398
American Journal of Medical Genetics. Part C, Seminars In... Poretti A, Boltshauser E et. al.

May 20th, 2014 - Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common, but non-specific neuroimaging finding. The etiological spectrum of CH is wide and includes both primary (malformative) and secondary (disruptive) conditions....

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