TY  - GEN
AU  - Mills,Philippa B
AU  - Footitt,Emma J
AU  - Ceyhan,Serkan
AU  - Waters,Paula J
AU  - Jakobs,Cornelis
AU  - Clayton,Peter T
AU  - Struys,Eduard A
TI  - Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency
SN  - 1573-2665
PY  - 2013///0405
KW  - 2-Aminoadipic Acid
KW  - analogs & derivatives
KW  - Adolescent
KW  - Amino Acid Metabolism, Inborn Errors
KW  - metabolism
KW  - Child
KW  - Coenzymes
KW  - deficiency
KW  - Cysteine
KW  - Humans
KW  - Infant, Newborn
KW  - L-Aminoadipate-Semialdehyde Dehydrogenase
KW  - antagonists & inhibitors
KW  - Lysine
KW  - Metabolic Networks and Pathways
KW  - Metal Metabolism, Inborn Errors
KW  - Metalloproteins
KW  - Models, Biological
KW  - Molybdenum Cofactors
KW  - Molybdoferredoxin
KW  - Oxidoreductases Acting on Sulfur Group Donors
KW  - Pteridines
KW  - Sulfite Oxidase
KW  - Sulfites
KW  - pharmacology
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10545-012-9466-1
ER  -