| 000 | 01909 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250516082403.0 | ||
| 264 | 0 | _c20130405 | |
| 008 | 201304s 0 0 eng d | ||
| 022 | _a1573-2665 | ||
| 024 | 7 |
_a10.1007/s10545-012-9466-1 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMills, Philippa B | |
| 245 | 0 | 0 |
_aUrinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _cNov 2012 |
||
| 300 |
_a1031-6 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_a2-Aminoadipic Acid _xanalogs & derivatives |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aAmino Acid Metabolism, Inborn Errors _xmetabolism |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCoenzymes _xdeficiency |
| 650 | 0 | 4 |
_aCysteine _xanalogs & derivatives |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aL-Aminoadipate-Semialdehyde Dehydrogenase _xantagonists & inhibitors |
| 650 | 0 | 4 |
_aLysine _xmetabolism |
| 650 | 0 | 4 | _aMetabolic Networks and Pathways |
| 650 | 0 | 4 |
_aMetal Metabolism, Inborn Errors _xmetabolism |
| 650 | 0 | 4 |
_aMetalloproteins _xdeficiency |
| 650 | 0 | 4 | _aModels, Biological |
| 650 | 0 | 4 | _aMolybdenum Cofactors |
| 650 | 0 | 4 |
_aMolybdoferredoxin _xmetabolism |
| 650 | 0 | 4 |
_aOxidoreductases Acting on Sulfur Group Donors _xdeficiency |
| 650 | 0 | 4 | _aPteridines |
| 650 | 0 | 4 |
_aSulfite Oxidase _xdeficiency |
| 650 | 0 | 4 |
_aSulfites _xpharmacology |
| 700 | 1 | _aFootitt, Emma J | |
| 700 | 1 | _aCeyhan, Serkan | |
| 700 | 1 | _aWaters, Paula J | |
| 700 | 1 | _aJakobs, Cornelis | |
| 700 | 1 | _aClayton, Peter T | |
| 700 | 1 | _aStruys, Eduard A | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 35 _gno. 6 _gp. 1031-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10545-012-9466-1 _zAvailable from publisher's website |
| 999 |
_c21608425 _d21608425 |
||