Results 101 to 110 of about 1,308 (153)

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

Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing. [PDF]

BMC Cardiovasc Disord
Arad M, Chaves AVF, Antunes M, Bakhsh A, Berger KI, Fat TH, Alves da Fonseca A, Furtado A, Maksimova I, Marques E Silva S, Maski M, Monjes E, Murillo Benitez NE, Ortuño Campos E, Ribeiro MG, Rodriguez-González MJ, Yu WC, Onay H.   +17 more
europepmc   +1 more source

Sex-based antibody subclass maturation drives direct enzymatic inhibition in fabry disease patients receiving enzyme replacement therapy. [PDF]

Front Mol Biosci
Baldwin T, Kurdi H, Doykov I, Robertson F, Rosmini S, Nordin S, Augusto J, Kozor R, Baruteau J, Davison J, Moreno-Martinez D, Ramaswami U, Vijapurapu R, Geberhiwot T, Steeds R, Moon J, Hughes D, Mills K, Heywood WE.   +18 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

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

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

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

Correction: Correlation of retinal vascular characteristics with laboratory and ocular findings in Fabry disease: exploring ocular diagnostic biomarkers. [PDF]

Orphanet J Rare Dis
Lindziute M, Kaufeld J, Hufendiek K, Volkmann I, Brockmann D, Hosari S, Hohberger B, Mardin C, Framme C, Tode J, Hufendiek K.   +10 more
europepmc   +1 more source

Newborn Screening in Fabry Disease. [PDF]

Int J Mol Sci
Olszewska M, Schwermer K, Pawlaczyk K.
europepmc   +1 more source

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