| 000 | 01661 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250517020215.0 | ||
| 264 | 0 | _c20160317 | |
| 008 | 201603s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.37015 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMikstiene, Violeta | |
| 245 | 0 | 0 |
_aThiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cJul 2015 |
||
| 300 |
_a1605-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAnemia, Megaloblastic _xdrug therapy |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDiabetes Mellitus _xdrug therapy |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xdrug therapy |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLithuania |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Transport Proteins _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 |
_aThiamine _xtherapeutic use |
| 650 | 0 | 4 |
_aThiamine Deficiency _xcongenital |
| 650 | 0 | 4 | _aTreatment Outcome |
| 700 | 1 | _aSongailiene, Jurgita | |
| 700 | 1 | _aByckova, Jekaterina | |
| 700 | 1 | _aRutkauskiene, Giedre | |
| 700 | 1 | _aJasinskiene, Edita | |
| 700 | 1 | _aVerkauskiene, Rasa | |
| 700 | 1 | _aLesinskas, Eugenijus | |
| 700 | 1 | _aUtkus, Algirdas | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 167 _gno. 7 _gp. 1605-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.37015 _zAvailable from publisher's website |
| 999 |
_c24647639 _d24647639 |
||