Results 151 to 160 of about 2,063 (198)

Evaluation on the impact of the X chromosome inactivation profile on phenotypic manifestation of inherited metabolic diseases in female patients [PDF]

, 2020
Paulo Filipe Freitas Rodrigues
core  

Fabry Disease Nephropathy: Compendium of "in vitro" and "in vivo" Renal Effects of Globotriaosylsphingosine.

Kidney Blood Press Res
Jaurretche SPA, Del Rosal MV, Brajkovic ML, Isaac JI, Venera G, Pérez G.   +5 more
europepmc   +1 more source

Elevated circulating cell-free mitochondrial DNA in fabry disease: insights into inflammatory activation. [PDF]

Front Immunol
Yuan Y, Zhang X, Zhao Y, Wang Y, Huang J, Wang Q, Song X, Deng J, Wang Z, Yuan Y, Zhang W.   +10 more
europepmc   +1 more source

A New Class of Pathogenic Non-Coding Variants in GLA. [PDF]

Int J Mol Sci
Yuan Y, Zhang X, Ling C, Zhao Y, Yu M, Wang Z, Yuan Y, Xie Z, Zhang W.   +8 more
europepmc   +1 more source

Glucosylsphingosine affects mitochondrial function in a neuronal cell model. [PDF]

Commun Biol
Nikolaenko V, Vootukuri R, Eaton S, Hällqvist J, Baldwin T, Mills K, Heywood W.   +6 more
europepmc   +1 more source

#2401 Association of clinical characteristics with relative changes in plasma lyso-Gb3 levels by enzyme replacement therapy in patients with Fabry disease [PDF]

Toshiyuki Hirai, Shunsuke Goto, Hayaki Okamoto, Kazuo Sakamoto, Keiji Kono, Hideki Fujii   +5 more
openalex   +1 more source

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood. [PDF]

Sisli Etfal Hastan Tip Bul
Gulten ZA, Cetincelik U, Guler A, Guler GB.   +3 more
europepmc   +1 more source

Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial. [PDF]

Neurol Res Pract
Choudhury M, Lenders M, Laufer P, Masthoff M, Canaan-Kühl S, Kurschat C, Muschol N, Hennermann JB, Cybulla M, Kaufeld J, Brand E, Bischof A.   +11 more
europepmc   +1 more source

A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease. [PDF]

Neurol Genet
Boettcher T, Beetz C, Schulze D, Saravanakumar D, Zonic E, Schroeder S, Kaune A, Oppermann S, Paknia O, Basto JP, Bauer P.   +10 more
europepmc   +1 more source

Exosome-Based Proteomic Profiling for Biomarker Discovery in Pediatric Fabry Disease: Insights into Early Diagnosis Monitoring. [PDF]

Biomedicines
Lu Z, Xia Y, Wang B, Jiang P, Mao J.
europepmc   +1 more source