| 000 | 01410 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250517162735.0 | ||
| 264 | 0 | _c20180604 | |
| 008 | 201806s 0 0 eng d | ||
| 022 | _a1530-0366 | ||
| 024 | 7 |
_a10.1038/gim.2017.84 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aStrovel, Erin T | |
| 245 | 0 | 0 |
_aLaboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. _h[electronic resource] |
| 260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _c10 2017 |
||
| 500 | _aPublication Type: Guideline; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aBiotinidase _xmetabolism |
| 650 | 0 | 4 |
_aBiotinidase Deficiency _xdiagnosis |
| 650 | 0 | 4 | _aClinical Laboratory Techniques |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Testing _xstandards |
| 650 | 0 | 4 |
_aGenetics, Medical _xmethods |
| 650 | 0 | 4 |
_aGenomics _xstandards |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aNeonatal Screening |
| 650 | 0 | 4 | _aUnited States |
| 700 | 1 | _aCowan, Tina M | |
| 700 | 1 | _aScott, Anna I | |
| 700 | 1 | _aWolf, Barry | |
| 773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 19 _gno. 10 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/gim.2017.84 _zAvailable from publisher's website |
| 999 |
_c27343022 _d27343022 |
||