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Gaucher disease type Ⅱ相关文献:
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG.
Int J Mol Sci. 2017 Feb 17;18(2):441. doi: 10.3390/ijms18020441.
PMID:28218669
[Gaucher disease: A review].
Nguyen Y, Stirnemann J, Belmatoug N.
Rev Med Interne. 2019 May;40(5):313-322. doi: 10.1016/j.revmed.2018.11.012. Epub 2019 Jan 11.
PMID:30638965
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C.
Mol Genet Metab. 2022 May;136(1):4-21. doi: 10.1016/j.ymgme.2022.03.001. Epub 2022 Mar 9.
PMID:35367141
Gaucher disease.
Guggenbuhl P, Grosbois B, Chalès G.
Joint Bone Spine. 2008 Mar;75(2):116-24. doi: 10.1016/j.jbspin.2007.06.006. Epub 2007 Aug 31.
PMID:17996473
Gaucher disease.
Ali MA, Saleh FM, Das K, Latif T.
Mymensingh Med J. 2011 Jul;20(3):490-2.
PMID:21804517
Neuropathic Gaucher disease.
Pastores GM.
Wien Med Wochenschr. 2010 Dec;160(23-24):605-8. doi: 10.1007/s10354-010-0850-x.
PMID:21221912
Gaucher disease.
Beutler E.
Blood Rev. 1988 Mar;2(1):59-70. doi: 10.1016/0268-960x(88)90009-4.
PMID:3289655
The clinical management of Type 2 Gaucher disease.
Weiss K, Gonzalez A, Lopez G, Pedoeim L, Groden C, Sidransky E.
Mol Genet Metab. 2015 Feb;114(2):110-122. doi: 10.1016/j.ymgme.2014.11.008. Epub 2014 Nov 14.
PMID:25435509
Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism.
Furderer ML, Hertz E, Lopez GJ, Sidransky E.
Int J Mol Sci. 2022 May 23;23(10):5842. doi: 10.3390/ijms23105842.
PMID:35628652
Perinatal-lethal Gaucher disease.
Mignot C, Gelot A, Bessières B, Daffos F, Voyer M, Menez F, Fallet Bianco C, Odent S, Le Duff D, Loget P, Fargier P, Costil J, Josset P, Roume J, Vanier MT, Maire I, Billette de Villemeur T.
Am J Med Genet A. 2003 Jul 30;120A(3):338-44. doi: 10.1002/ajmg.a.20117.
PMID:12838552
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