000 00955 a2200253 4500
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