| 000 | 02489 a2200769 4500 | ||
|---|---|---|---|
| 005 | 20250516090451.0 | ||
| 264 | 0 | _c20121015 | |
| 008 | 201210s 0 0 eng d | ||
| 022 | _a0006-3002 | ||
| 024 | 7 |
_a10.1016/j.bbadis.2012.04.001 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _avan Kuilenburg, André B P | |
| 245 | 0 | 0 |
_aß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. _h[electronic resource] |
| 260 |
_bBiochimica et biophysica acta _cJul 2012 |
||
| 300 |
_a1096-108 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAmidohydrolases _xdeficiency |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aAmino Acid Substitution _xphysiology |
| 650 | 0 | 4 |
_aAminoisobutyric Acids _xblood |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aBiocatalysis |
| 650 | 0 | 4 |
_aCatalytic Domain _xphysiology |
| 650 | 0 | 4 |
_aCentral Nervous System Diseases _xenzymology |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDrosophila melanogaster |
| 650 | 0 | 4 | _aEscherichia coli |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutagenesis, Site-Directed |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 |
_aProtein Interaction Domains and Motifs _xphysiology |
| 650 | 0 | 4 |
_aPurine-Pyrimidine Metabolism, Inborn Errors _xenzymology |
| 650 | 0 | 4 |
_aPyrimidines _xmetabolism |
| 650 | 0 | 4 |
_aRacial Groups _xgenetics |
| 650 | 0 | 4 |
_abeta-Alanine _xblood |
| 700 | 1 | _aDobritzsch, Doreen | |
| 700 | 1 | _aMeijer, Judith | |
| 700 | 1 | _aKrumpel, Michael | |
| 700 | 1 | _aSelim, Laila A | |
| 700 | 1 | _aRashed, Mohamed S | |
| 700 | 1 | _aAssmann, Birgit | |
| 700 | 1 | _aMeinsma, Rutger | |
| 700 | 1 | _aLohkamp, Bernhard | |
| 700 | 1 | _aIto, Tetsuya | |
| 700 | 1 | _aAbeling, Nico G G M | |
| 700 | 1 | _aSaito, Kayoko | |
| 700 | 1 | _aEto, Kaoru | |
| 700 | 1 | _aSmitka, Martin | |
| 700 | 1 | _aEngvall, Martin | |
| 700 | 1 | _aZhang, Chunhua | |
| 700 | 1 | _aXu, Wang | |
| 700 | 1 | _aZoetekouw, Lida | |
| 700 | 1 | _aHennekam, Raoul C M | |
| 773 | 0 |
_tBiochimica et biophysica acta _gvol. 1822 _gno. 7 _gp. 1096-108 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.bbadis.2012.04.001 _zAvailable from publisher's website |
| 999 |
_c21723833 _d21723833 |
||