Literature summary for 2.7.1.36 extracted from

Breton Martinez, J.R.; Canovas Martinez, A.; Casana Perez, S.; Escriba Alepuz, J.; Gimenez Vazquez, F.
Mevalonic aciduria: report of two cases (2007), J. Inherit. Metab. Dis., 30, 829.

Application

Application	Comment	Organism
medicine	case study of patients with mevalonic aciduria. Patients display high urinary excretion of mevalonic acid. After the second year of life they developed mental retardation, ataxia and hypotonia as well as cerebellar atrophy of both hemispheres and vermis	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patients with mevalonic aciduria	-

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Release 2023.1 (January 2023)