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名词信息
中 文 名:
法布里病
英 文 名:
Fabry disease
中文又称:
Fabry病
中文曾称:
名词来源:
所属专业:
神经内科
所属类别:
疾病诊断名词
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Pubmed相关的文献
Fabry disease
相关文献:
[Fabry disease: A review].
Michaud M, Mauhin W, Belmatoug N, Bedreddine N, Garnotel R, Catros F, Lidove O, Gaches F.
Rev Med Interne. 2021 Feb;42(2):110-119. doi: 10.1016/j.revmed.2020.08.019. Epub 2020 Nov 7.
PMID:33172708
A Review of Fabry Disease.
Chan B, Adam DN.
Skin Therapy Lett. 2018 Mar;23(2):4-6.
PMID:29562089
Fabry disease: where are we now?
Turkmen K, Baloglu I.
Int Urol Nephrol. 2020 Nov;52(11):2113-2122. doi: 10.1007/s11255-020-02546-3. Epub 2020 Jul 13.
PMID:32661622
An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.
Germain DP, Altarescu G, Barriales-Villa R, Mignani R, Pawlaczyk K, Pieruzzi F, Terryn W, Vujkovac B, Ortiz A.
Mol Genet Metab. 2022 Sep-Oct;137(1-2):49-61. doi: 10.1016/j.ymgme.2022.07.010. Epub 2022 Jul 26.
PMID:35926321
When and How to Diagnose Fabry Disease in Clinical Pratice.
Michaud M, Mauhin W, Belmatoug N, Garnotel R, Bedreddine N, Catros F, Ancellin S, Lidove O, Gaches F.
Am J Med Sci. 2020 Dec;360(6):641-649. doi: 10.1016/j.amjms.2020.07.011. Epub 2020 Jul 10.
PMID:32723516
Fabry disease: genetics, pathology, and treatment.
Bernardes TP, Foresto RD, Kirsztajn GM.
Rev Assoc Med Bras (1992). 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10.
PMID:31939530
Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.
Izhar R, Borriello M, La Russa A, Di Paola R, De A, Capasso G, Ingrosso D, Perna AF, Simeoni M.
Genes (Basel). 2023 Dec 26;15(1):37. doi: 10.3390/genes15010037.
PMID:38254927
Fabry disease.
Schiffmann R.
Handb Clin Neurol. 2015;132:231-48. doi: 10.1016/B978-0-444-62702-5.00017-2.
PMID:26564084
Fabry's disease.
El-Abassi R, Singhal D, England JD.
J Neurol Sci. 2014 Sep 15;344(1-2):5-19. doi: 10.1016/j.jns.2014.06.029. Epub 2014 Jun 21.
PMID:25106696
Fabry's Disease.
Soloway S, Lister D.
N Engl J Med. 2024 Sep 19;391(11):1038. doi: 10.1056/NEJMicm2402990.
PMID:39292930
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