Results 121 to 130 of about 6,638 (157)

Clinical outcomes of agalsidase Beta (fabrazyme) in Chinese fabry disease patients with proteinuria: a case series. [PDF]

Front Pediatr
He Z, Wu Y, Yang H, Li Y, Xu L.
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Concurrent fabry disease and monoclonal gammopathy of renal significance: a case report. [PDF]

BMC Nephrol
Li XY, Chen QN, Fang JN, Zeng ZC, Pan Y.
europepmc   +1 more source

Case Report: Fabry disease presenting with electrocardiographic findings mimicking acute myocardial infarction: a diagnostic challenge. [PDF]

Front Cardiovasc Med
Xie JM, Li Q, Xiao ZQ, Zheng ZJ.
europepmc   +1 more source

The Sphingolipid Balance and Endothelial Dysfunction in Lysosomal Storage Diseases: Shared Mechanisms in Gaucher, Niemann-Pick and Fabry Disease. [PDF]

Int J Mol Sci
Nekrasova A, Kutsev S, Shestopalov A.
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Newborn Screening in Fabry Disease. [PDF]

Int J Mol Sci
Olszewska M, Schwermer K, Pawlaczyk K.
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Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy. [PDF]

Int J Mol Sci
Grimaldi A, Auletta A, Ciurli F, Aiello V, Vischini G, Fabbrizio B, Becherucci F, Pasquinelli G, La Manna G, Capelli I, Mignani R.   +10 more
europepmc   +1 more source

Clinical awareness and targeted manual urine microscopy enable diagnosis of a fabry disease family missed by routine urinalysis. [PDF]

BMC Nephrol
Kato H, Yokoyama T, Manabe S, Seki M, Ushio Y, Makabe S, Kobayashi S, Kataoka H, Nitta K, Hoshino J.   +9 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

Novel GLA variant in Fabry cardiomyopathy: evidence of pathogenicity and amenability to migalastat. [PDF]

Open Heart
Fan Y, Cui C, Zhang X, Hu C, Xu A, Wang L, Li H, Zhu X, Niu F.   +8 more
europepmc   +1 more source

Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension study. [PDF]

Orphanet J Rare Dis
Holida M, Linhart A, Longo N, Wallace E, Tøndel C, Hughes D, Warnock DG, Pisani A, Eyskens F, Deegan P, Feldt-Rasmussen U, Goker-Alpan O, Mehta A, Piotti G, Fichera V, Wang M, Chertkoff R, Waldek S, Wilcox WR, Bernat JA.   +19 more
europepmc   +1 more source