Results 91 to 100 of about 982 (163)

Potential Usefulness of Lifetime Globotriaosylsphingosine Exposure at Diagnosis and Baseline Modified Disease Severity Score in Early-Diagnosed Patients With Fabry Disease [PDF]

Junko Hotta, Yukiko Jogu, Haruka Bamba, Yasuhiro Izumiya, Masaharu Kudo, Takumi Imai, Hitoshi Sakuraba, Takashi Hamazaki, Toshiyuki Seto   +8 more
openalex   +1 more source

HTA65 The Relationship between Globotriaosylceramide (GB3), Globotriaosylsphingosine (LYSO-GB3) and Disease-Related Clinical Events in Patients with Fabry Disease [PDF]

, 2022
K Azimpour, E Kim, Mihaela Georgiana Musat, L Monfort, E Cha   +4 more
openalex   +1 more source

Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients [PDF]

, 2021
Sabrina Malvagia, Lorenzo Ferri, Maria Della Bona, Walter Borsini, Calogero Lino Cirami, Egrina Dervishi, Sandro Feriozzi, Serena Gasperini, Serena Motta, Renzo Mignani, Barbara Trezzi, Federico Pieruzzi, Amelia Morrone, Marta Daniotti, Maria Alice Donati, Giancarlo la Marca   +15 more
openalex   +1 more source

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A) [PDF]

, 2014
Haochuan Liu, Hsiang-Yu Lin, Chia‐Feng Yang, Hsuan-Chieh Liao, Ting‐Rong Hsu, Chiao‐Wei Lo, Fu‐Pang Chang, Chun‐Kai Huang, Yung-Hsiu Lu, Shuan‐Pei Lin, Wen‐Chung Yu, Dau‐Ming Niu   +11 more
openalex   +1 more source

One-step synthesis of carbon-13-labeled globotriaosylsphingosine (lyso-Gb3), an internal standard for biomarker analysis of Fabry disease

, 2018
Xinying Hong, Michael H. Gelb
openalex   +2 more sources

Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy [PDF]

, 2018
Daniel Franzen, Sarah R. Haile, David C. Kasper, Thomas P. Mechtler, Andreas J. Flammer, Pierre Krayenbühl, Albina Nowak   +6 more
openalex   +1 more source

From Shoulder to Heart: Acute Shoulder Pain Leads to a Diagnosis of Fabry Disease. [PDF]

JACC Case Rep
Kalaria A, Farooq W, Kolupoti A, Meng J, Kim AS.   +4 more
europepmc   +1 more source

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A)

, 2013
Hsuan-Chieh Liao, Yu-Hsiu Huang, Yann-Jang Chen, Shu-Min Kao, Hsiang‐Yu Lin, Chun-Kai Huang, Hao-Chuan Liu, Ting‐Rong Hsu, Shuan-Pei Lin, Chia-Feng Yang, Cathy S.J. Fann, Pao-Chin Chiu, Kai‐Sheng Hsieh, Yun‐Ching Fu, Yu-Yuan Ke, Ching-Yuang Lin, Fuu‐Jen Tsai, Chung-Hsing Wang, Mei‐Chyn Chao, Wen‐Chung Yu, Chuan-Chi Chiang, Dau‐Ming Niu   +21 more
openalex   +1 more source

A phase 4, open-label, multicenter study of the safety and efficacy of agalsidase beta in Chinese patients with Fabry disease. [PDF]

Orphanet J Rare Dis
Ren H, Zhang W, Ouyang Y, Guo J, Xu H, Ma J, Luo X, Pan X, Yuan Y, Zhang W, Shen Q, Li B, Feng Q, Liu S, Chen N.   +14 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