| 000 | 01454 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250516031207.0 | ||
| 264 | 0 | _c20111202 | |
| 008 | 201112s 0 0 eng d | ||
| 022 | _a1573-2665 | ||
| 024 | 7 |
_a10.1007/s10545-011-9305-9 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMohamed, Miski | |
| 245 | 0 | 0 |
_aMetabolic cutis laxa syndromes. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _cAug 2011 |
||
| 300 |
_a907-16 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Review | ||
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xclassification |
| 650 | 0 | 4 |
_aCutis Laxa _xdiagnosis |
| 650 | 0 | 4 |
_aGuanine Nucleotide Exchange Factors _xdeficiency |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMenkes Kinky Hair Syndrome _xdiagnosis |
| 650 | 0 | 4 |
_aMetabolic Networks and Pathways _xgenetics |
| 650 | 0 | 4 | _aModels, Biological |
| 650 | 0 | 4 |
_aOrnithine-Oxo-Acid Transaminase _xdeficiency |
| 650 | 0 | 4 |
_aPyrroline Carboxylate Reductases _xdeficiency |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _adelta-1-Pyrroline-5-Carboxylate Reductase |
| 700 | 1 | _aKouwenberg, Dorus | |
| 700 | 1 | _aGardeitchik, Thatjana | |
| 700 | 1 | _aKornak, Uwe | |
| 700 | 1 | _aWevers, Ron A | |
| 700 | 1 | _aMorava, Eva | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 34 _gno. 4 _gp. 907-16 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10545-011-9305-9 _zAvailable from publisher's website |
| 999 |
_c20701517 _d20701517 |
||