| 000 | 02844 a2200925 4500 | ||
|---|---|---|---|
| 005 | 20250518033302.0 | ||
| 264 | 0 | _c20190426 | |
| 008 | 201904s 0 0 eng d | ||
| 022 | _a1533-4406 | ||
| 024 | 7 |
_a10.1056/NEJMoa1806627 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _avan Kuilenburg, André B P | |
| 245 | 0 | 0 |
_aGlutaminase Deficiency Caused by Short Tandem Repeat Expansion in _h[electronic resource] |
| 260 |
_bThe New England journal of medicine _c04 2019 |
||
| 300 |
_a1433-1441 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAmino Acid Metabolism, Inborn Errors _xgenetics |
| 650 | 0 | 4 |
_aAtaxia _xgenetics |
| 650 | 0 | 4 |
_aAtrophy _xgenetics |
| 650 | 0 | 4 |
_aCerebellum _xpathology |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aGlutaminase _xdeficiency |
| 650 | 0 | 4 |
_aGlutamine _xanalysis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMicrosatellite Repeats |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 | _aWhole Genome Sequencing |
| 700 | 1 | _aTarailo-Graovac, Maja | |
| 700 | 1 | _aRichmond, Phillip A | |
| 700 | 1 | _aDrögemöller, Britt I | |
| 700 | 1 | _aPouladi, Mahmoud A | |
| 700 | 1 | _aLeen, René | |
| 700 | 1 | _aBrand-Arzamendi, Koroboshka | |
| 700 | 1 | _aDobritzsch, Doreen | |
| 700 | 1 | _aDolzhenko, Egor | |
| 700 | 1 | _aEberle, Michael A | |
| 700 | 1 | _aHayward, Bruce | |
| 700 | 1 | _aJones, Meaghan J | |
| 700 | 1 | _aKarbassi, Farhad | |
| 700 | 1 | _aKobor, Michael S | |
| 700 | 1 | _aKoster, Janet | |
| 700 | 1 | _aKumari, Daman | |
| 700 | 1 | _aLi, Meng | |
| 700 | 1 | _aMacIsaac, Julia | |
| 700 | 1 | _aMcDonald, Cassandra | |
| 700 | 1 | _aMeijer, Judith | |
| 700 | 1 | _aNguyen, Charlotte | |
| 700 | 1 | _aRajan-Babu, Indhu-Shree | |
| 700 | 1 | _aScherer, Stephen W | |
| 700 | 1 | _aSim, Bernice | |
| 700 | 1 | _aTrost, Brett | |
| 700 | 1 | _aTseng, Laura A | |
| 700 | 1 | _aTurkenburg, Marjolein | |
| 700 | 1 | _avan Vugt, Joke J F A | |
| 700 | 1 | _aVeldink, Jan H | |
| 700 | 1 | _aWalia, Jagdeep S | |
| 700 | 1 | _aWang, Youdong | |
| 700 | 1 | _avan Weeghel, Michel | |
| 700 | 1 | _aWright, Galen E B | |
| 700 | 1 | _aXu, Xiaohong | |
| 700 | 1 | _aYuen, Ryan K C | |
| 700 | 1 | _aZhang, Jinqiu | |
| 700 | 1 | _aRoss, Colin J | |
| 700 | 1 | _aWasserman, Wyeth W | |
| 700 | 1 | _aGeraghty, Michael T | |
| 700 | 1 | _aSantra, Saikat | |
| 700 | 1 | _aWanders, Ronald J A | |
| 700 | 1 | _aWen, Xiao-Yan | |
| 700 | 1 | _aWaterham, Hans R | |
| 700 | 1 | _aUsdin, Karen | |
| 700 | 1 | _avan Karnebeek, Clara D M | |
| 773 | 0 |
_tThe New England journal of medicine _gvol. 380 _gno. 15 _gp. 1433-1441 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1056/NEJMoa1806627 _zAvailable from publisher's website |
| 999 |
_c29574074 _d29574074 |
||