Results 131 to 140 of about 3,748 (212)

Early⁃onset Parkinson's disease caused by LRRK2 R1067Q and GBA R202Q variation: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery
LIU Chen, GAN Jing, ZHANG Yu, LIU Zhen‑guo   +3 more
doaj   +1 more source

The Arabidopsis AtGCD3 protein is a glucosylceramidase that preferentially hydrolyzes long-acyl-chain glucosylceramides [PDF]

, 2019
Guangyi Dai, Jian Yin, Kai-En Li, Ding‐Kang Chen, Zhe Liu, Fangcheng Bi, Chan Rong, Nan Yao   +7 more
openalex   +1 more source

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype. [PDF]

Am J Case Rep
Cullufi P, Velmishi V, Dervishi E, Tomori S, Hoxha G, Jazexhiu-Postoli E, Basha E, Tako AK, Tabaku M.   +8 more
europepmc   +1 more source

GBA3 as a regulator of sphingolipid metabolism in the progression of hepatocellular carcinoma. [PDF]

J Gastrointest Oncol
Wang X, Li L, Sun T, Qiu Z.
europepmc   +1 more source

Resolving versus non-resolving sphingolipid dynamics during macrophage activation: a time-resolved metabolic analysis. [PDF]

J Lipid Res
Chiappa NF, Lal N, Botchwey EA.
europepmc   +1 more source

Досягнення у вивченні та лікуванні хвороби паркінсона в Україні [PDF]

, 2017
Грінкевич, В. М., Погоріла, І. О., Хольба, М. Ю.   +2 more
core  

Editorial: Exploring gut neuroimmunology: focus on the enteric nervous system in health and disease. [PDF]

Front Neurosci
Otero-Losada M, Bhave S, Dora D.
europepmc   +1 more source

Comparative analysis of the silk gland transcriptomes between the domestic and wild silkworms [PDF]

, 2015
Bi-Li Hu, Qiu-Zhong Zhou, Quan-You Yu, Shou-Min Fang, Ze Zhang   +4 more
core   +1 more source

Unexpected Gaucher disease in a case of steroid-resistant nephrotic syndrome. [PDF]

Pediatr Nephrol
Gehad MH, Youssef DM, Mokhtar WA, Fathy MM, Gohary A.   +4 more
europepmc   +1 more source

Sinbaglustat is efficacious in GM2 gangliosidosis primarily through inhibition of GBA2 rather than GCS. [PDF]

Mol Ther Adv
Steiner MA, Vaillant C, Garzotti M, Gulinello M, VanBrakle ML, Ryge J, Mühlemann A, Dobrenis K, Welford RWD.   +8 more
europepmc   +1 more source