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ALLMedicine™ Adenylosuccinase Deficiency Center

Research & Reviews  3 results

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency follow...
American Journal of Medical Genetics. Part A; Sitaram S, Banka HC et. al.

Oct 23rd, 2022 - Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post-mortem examination sho...

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.
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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