Metabolism, Inborn Errors; Inborn Errors of Metabolism

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Diagnosis and therapies

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Symptoms and diagnosis

Symptoms:

Wikipedia

Lysinuric protein intolerancePseudoporphyriaVariegate porphyria

More information

Reported cases - Summary of cases reported on this disease WHO - World Health Organization PubMed - A service of the National Library of Medicine and National Institutes of Health MEDLINE - Literature from the National Library of Medicine MeSH - Medical Subject Headings DeCS - Health Sciences Descriptors

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