Mills, Philippa B

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. [electronic resource] - Journal of inherited metabolic disease Nov 2012 - 1031-6 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1573-2665

10.1007/s10545-012-9466-1 doi


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