Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. [electronic resource]
Producer: 20130405Description: 1031-6 p. digitalISSN:- 1573-2665
- 2-Aminoadipic Acid -- analogs & derivatives
- Adolescent
- Amino Acid Metabolism, Inborn Errors -- metabolism
- Child
- Coenzymes -- deficiency
- Cysteine -- analogs & derivatives
- Humans
- Infant, Newborn
- L-Aminoadipate-Semialdehyde Dehydrogenase -- antagonists & inhibitors
- Lysine -- metabolism
- Metabolic Networks and Pathways
- Metal Metabolism, Inborn Errors -- metabolism
- Metalloproteins -- deficiency
- Models, Biological
- Molybdenum Cofactors
- Molybdoferredoxin -- metabolism
- Oxidoreductases Acting on Sulfur Group Donors -- deficiency
- Pteridines
- Sulfite Oxidase -- deficiency
- Sulfites -- pharmacology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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