| 000 | 01888 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250517135043.0 | ||
| 264 | 0 | _c20170714 | |
| 008 | 201707s 0 0 eng d | ||
| 022 | _a1708-8283 | ||
| 024 | 7 |
_a10.1177/0883073817690094 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBenke, Paul J | |
| 245 | 0 | 0 |
_aInfantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges. _h[electronic resource] |
| 260 |
_bJournal of child neurology _c05 2017 |
||
| 300 |
_a543-549 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnostic imaging |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aBrain Diseases _xdiagnostic imaging |
| 650 | 0 | 4 |
_aCarbohydrate Metabolism, Inborn Errors _xcomplications |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFetal Growth Retardation _xdiagnostic imaging |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIchthyosis _xdiagnostic imaging |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLimb Deformities, Congenital _xdiagnostic imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xcomplications |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPhosphoglycerate Dehydrogenase _xdeficiency |
| 650 | 0 | 4 |
_aPsychomotor Disorders _xcomplications |
| 650 | 0 | 4 |
_aSeizures _xcomplications |
| 650 | 0 | 4 |
_aSerine _xbiosynthesis |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aHidalgo, Ryan J | |
| 700 | 1 | _aBraffman, Bruce H | |
| 700 | 1 | _aJans, Judith | |
| 700 | 1 | _aGassen, Koen L I van | |
| 700 | 1 | _aSunbul, Rawda | |
| 700 | 1 | _aEl-Hattab, Ayman W | |
| 773 | 0 |
_tJournal of child neurology _gvol. 32 _gno. 6 _gp. 543-549 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1177/0883073817690094 _zAvailable from publisher's website |
| 999 |
_c26831084 _d26831084 |
||