| 000 | 03512 a2201117 4500 | ||
|---|---|---|---|
| 005 | 20250517025435.0 | ||
| 264 | 0 | _c20160920 | |
| 008 | 201609s 0 0 eng d | ||
| 022 | _a1573-2665 | ||
| 024 | 7 |
_a10.1007/s10545-015-9839-3 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKölker, Stefan | |
| 245 | 0 | 0 |
_aThe phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _cNov 2015 |
||
| 300 |
_a1041-57 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 |
_aAmino Acid Metabolism, Inborn Errors _xdiagnosis |
| 650 | 0 | 4 |
_aBrain Diseases, Metabolic _xdiagnosis |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aEurope |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGlutaryl-CoA Dehydrogenase _xdeficiency |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHyperammonemia _xdiagnosis |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aIntellectual Disability |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aOrnithine Carbamoyltransferase Deficiency Disease _xdiagnosis |
| 650 | 0 | 4 | _aRegistries |
| 650 | 0 | 4 |
_aUrea Cycle Disorders, Inborn _xdiagnosis |
| 650 | 0 | 4 | _aVomiting |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aGarcia-Cazorla, Angeles | |
| 700 | 1 | _aCazorla, Angeles Garcia | |
| 700 | 1 | _aValayannopoulos, Vassili | |
| 700 | 1 | _aLund, Allan M | |
| 700 | 1 | _aBurlina, Alberto B | |
| 700 | 1 | _aSykut-Cegielska, Jolanta | |
| 700 | 1 | _aWijburg, Frits A | |
| 700 | 1 | _aTeles, Elisa Leão | |
| 700 | 1 | _aZeman, Jiri | |
| 700 | 1 | _aDionisi-Vici, Carlo | |
| 700 | 1 | _aBarić, Ivo | |
| 700 | 1 | _aKarall, Daniela | |
| 700 | 1 | _aAugoustides-Savvopoulou, Persephone | |
| 700 | 1 | _aAksglaede, Lise | |
| 700 | 1 | _aArnoux, Jean-Baptiste | |
| 700 | 1 | _aAvram, Paula | |
| 700 | 1 | _aBaumgartner, Matthias R | |
| 700 | 1 | _aBlasco-Alonso, Javier | |
| 700 | 1 | _aChabrol, Brigitte | |
| 700 | 1 | _aChakrapani, Anupam | |
| 700 | 1 | _aChapman, Kimberly | |
| 700 | 1 | _aI Saladelafont, Elisenda Cortès | |
| 700 | 1 | _aCouce, Maria L | |
| 700 | 1 | _ade Meirleir, Linda | |
| 700 | 1 | _aDobbelaere, Dries | |
| 700 | 1 | _aDvorakova, Veronika | |
| 700 | 1 | _aFurlan, Francesca | |
| 700 | 1 | _aGleich, Florian | |
| 700 | 1 | _aGradowska, Wanda | |
| 700 | 1 | _aGrünewald, Stephanie | |
| 700 | 1 | _aJalan, Anil | |
| 700 | 1 | _aHäberle, Johannes | |
| 700 | 1 | _aHaege, Gisela | |
| 700 | 1 | _aLachmann, Robin | |
| 700 | 1 | _aLaemmle, Alexander | |
| 700 | 1 | _aLangereis, Eveline | |
| 700 | 1 | _ade Lonlay, Pascale | |
| 700 | 1 | _aMartinelli, Diego | |
| 700 | 1 | _aMatsumoto, Shirou | |
| 700 | 1 | _aMühlhausen, Chris | |
| 700 | 1 | _ade Baulny, Hélène Ogier | |
| 700 | 1 | _aOrtez, Carlos | |
| 700 | 1 | _aPeña-Quintana, Luis | |
| 700 | 1 | _aRamadža, Danijela Petković | |
| 700 | 1 | _aRodrigues, Esmeralda | |
| 700 | 1 | _aScholl-Bürgi, Sabine | |
| 700 | 1 | _aSokal, Etienne | |
| 700 | 1 | _aStaufner, Christian | |
| 700 | 1 | _aSummar, Marshall L | |
| 700 | 1 | _aThompson, Nicholas | |
| 700 | 1 | _aVara, Roshni | |
| 700 | 1 | _aPinera, Inmaculada Vives | |
| 700 | 1 | _aWalter, John H | |
| 700 | 1 | _aWilliams, Monique | |
| 700 | 1 | _aBurgard, Peter | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 38 _gno. 6 _gp. 1041-57 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10545-015-9839-3 _zAvailable from publisher's website |
| 999 |
_c24805949 _d24805949 |
||