000 | 00955 a2200253 4500 | ||
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005 | 20250518084230.0 | ||
008 | ####s 0 0 eng d | ||
022 | _a2214-4269 | ||
024 | 7 |
_a10.1016/j.ymgmr.2020.100567 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aZeid, Natasha | |
245 | 0 | 0 |
_aThe N370S/R496H genotype in type 1 Gaucher disease - Natural history and implications for pre symptomatic diagnosis and counseling. _h[electronic resource] |
260 |
_bMolecular genetics and metabolism reports _cMar 2020 |
||
300 |
_a100567 p. _bdigital |
||
500 | _aPublication Type: Journal Article | ||
700 | 1 | _aStauffer, Chanan | |
700 | 1 | _aYang, Amy | |
700 | 1 | _aNaik, Hetanshi | |
700 | 1 | _aFierro, Luca | |
700 | 1 | _aGanesh, Jaya | |
700 | 1 | _aBalwani, Manisha | |
773 | 0 |
_tMolecular genetics and metabolism reports _gvol. 22 _gp. 100567 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgmr.2020.100567 _zAvailable from publisher's website |
999 |
_c30619392 _d30619392 |