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G

Gabriela Dostálová

Charles University and General University Hospital
H指数:14
被引数:633

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Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients

α-半乳糖苷酶A活性、溶酶体Gb3和X染色体失活的参数化评估有助于法布雷病女性患者的基因型-表型分类

Journal of Inherited Metabolic Disease
IF3.8
2026-06-220
OAAI
Ladislav Kuchar; Lenka Dvorakova; Linda Berna; Martin Reboun; Petra Slavikova; Radovan Bakalar; Jana Ledvinova; Helena Poupetova; Petr Ruzicka; Asfaw Befekadu; Gabriela Dostalova; Stella Reichmannova; Ales Linhart; Jakub Sikora
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial

低剂量半乳糖苷酶 β 治疗小儿法布里病男性患者的5年随机对照试验

MOLECULAR GENETICS AND METABOLISM
IF3.5
2019-05-0128
OAAI
Ramaswami, Uma; Bichet, Daniel G.; Clarke, Lorne A.; Dostalova, Gabriela; Fainboim, Alejandro; Fellgiebel, Andreas; Forcelini, Cassiano M.; Haack, Kristina An; Hopkin, Robert J.; Mauer, Michael; Najafian, Behzad; Scott, C. Ronald; Shankar, Suma P.; Thurberg, Beth L.; Tondel, Camilla; Tylki-Szyrnanska, Anna; Benichou, Bernard; Wijburg, Frits A.

研究方向

暂未获取到该数据
A
Aleš Linhart
H 指数:81论文数:671被引数:10.5万
C
Camilla Tøndel
H 指数:32论文数:145被引数:4,251
B
Bojan Vujkovac
H 指数:19论文数:81被引数:1,928
S
Suma P. Shankar
H 指数:26论文数:155被引数:3,617
U
Uma Ramaswami
H 指数:49论文数:227被引数:7,666
F
Frits A. Wijburg
H 指数:73论文数:413被引数:1.8万
R
Robert J. Hopkin
H 指数:57论文数:324被引数:1.2万
L
L. Clarke
H 指数:49论文数:269被引数:8,811
B
Bernard Bénichou
H 指数:19论文数:42被引数:5,201
A
Anna Tylki‐Szymańska
H 指数:49论文数:388被引数:9,362