Results 111 to 120 of about 1,271 (166)

Clinical Practice of Multidisciplinary Team-Guided Comprehensive Management for Pediatric Patients with Fabry Disease: A Single-Center Case Series. [PDF]

J Multidiscip Healthc
Liu Y, Liu X, Yang M, Wang Q, Xu W, Zeng J, Han T, Mao H, Qian S.   +8 more
europepmc   +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

Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH). [PDF]

BMC Nephrol
Ng KP, Sandhu M, Banerjee D, Burton JO, Crowley L, Doulton T, Hameed MA, Hamer R, Menon M, Nicholas J, Ramakrishna SB, Shivakumar K, Geberhiwot T, Dasgupta I.   +13 more
europepmc   +1 more source

Immuno-Inflammatory Profiling and Complement Activation in Fabry Disease: A Cross-Sectional Study. [PDF]

Int J Mol Sci
Peña-Rodríguez M, Bara-Ledesma N, Fabregate M, Morales Conejo M, Domínguez-Rodríguez F, Merino-Ortiz B, Stanescu S, Ruiz-Sala P, González García A, Belanger-Quintana A, López-Rodríguez M.   +10 more
europepmc   +1 more source

Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled study. [PDF]

Orphanet J Rare Dis
Xu Y, Chen Y, Fan J, Kou S, Zhuang X, Zhou B, Zhang X.   +6 more
europepmc   +1 more source

Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development. [PDF]

Front Pharmacol
Gómez-Cebrián N, Trull MC, Gras-Colomer E, Edo Solsona MD, Poveda Andrés JL, Puchades-Carrasco L.   +5 more
europepmc   +1 more source

How should kidney injury in Fabry disease be assessed and monitored? [PDF]

Kidney Res Clin Pract
Song SH.
europepmc   +1 more source

Screening for Fabry Disease Among Dialysis Patients: A Multicenter Cross-Sectional Study in Türkiye with Cascade Screening of Identified Cases. [PDF]

Medicina (Kaunas)
Atılgan KG, Aylı BI, Aylı MD.
europepmc   +1 more source

A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels

A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low alpha-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene. This mutation was considered
openaire   +1 more source