Archive for the 'Disease #' Category

5-alpha-reductase deficiency

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3-Methylglutaconic aciduria

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3-Methylcrotonyl-CoA carboxylase deficiency

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3-hydroxy-3-methylglutaryl-CoA lyase deficiency

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2-Hydroxyglutaric aciduria

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17-beta-hydroxysteroid dehydrogenase deficiency

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1p36 deletion syndrome

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22q11.2 deletion syndrome

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3 hydroxyisobutyric aciduria

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3 methylcrotonic aciduria

Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.