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Year Number of Results
1999 1
2002 2
2003 2
2005 1
2006 1
2007 3
2008 3
2011 1
2014 2
2015 1
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2017 5
2018 4
2019 1
2020 1
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27 results

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Quoted phrase not found in phrase index: "Cardiac lipidosis, familial"
Page 1
Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease.
Hughes D, Gonzalez D, Maegawa G, Bernat JA, Holida M, Giraldo P, Atta MG, Chertkoff R, Alon S, Almon EB, Rocco R, Goker-Alpan O. Hughes D, et al. Genet Med. 2023 Dec;25(12):100968. doi: 10.1016/j.gim.2023.100968. Epub 2023 Aug 24. Genet Med. 2023. PMID: 37634127 Free article.
At 60 months, the estimated glomerular filtration rate slope was comparable to that observed in patients treated with other ERTs. Cardiac function assessments revealed stability; no cardiac fibrosis was observed. ...
At 60 months, the estimated glomerular filtration rate slope was comparable to that observed in patients treated with other ERTs. Cardiac …
Non-specific gastrointestinal features: Could it be Fabry disease?
Hilz MJ, Arbustini E, Dagna L, Gasbarrini A, Goizet C, Lacombe D, Liguori R, Manna R, Politei J, Spada M, Burlina A. Hilz MJ, et al. Dig Liver Dis. 2018 May;50(5):429-437. doi: 10.1016/j.dld.2018.02.011. Epub 2018 Mar 1. Dig Liver Dis. 2018. PMID: 29602572 Free article. Review.
They may suggest more common disorders, e.g. irritable bowel syndrome or inflammatory bowel disease. The confounding clinical presentation and rarity of Fabry disease often cause long diagnostic delays and multiple misdiagnoses. ...When symptoms or family history su …
They may suggest more common disorders, e.g. irritable bowel syndrome or inflammatory bowel disease. The confounding clinical present …
Female Fabry disease patients and X-chromosome inactivation.
Juchniewicz P, Kloska A, Tylki-Szymańska A, Jakóbkiewicz-Banecka J, Węgrzyn G, Moskot M, Gabig-Cimińska M, Piotrowska E. Juchniewicz P, et al. Gene. 2018 Jan 30;641:259-264. doi: 10.1016/j.gene.2017.10.064. Epub 2017 Oct 25. Gene. 2018. PMID: 29079200
The aim of this study was to assess severity of the clinical phenotype, to analyze XCI patterns, and to estimate their effect on disease manifestation in twelve female Fabry disease patients from five unrelated Polish families. Our analyses revealed that patients pr …
The aim of this study was to assess severity of the clinical phenotype, to analyze XCI patterns, and to estimate their effect on dise …
Pulmonary arterial hypertension related to connective tissue disease: a review.
Ahmed S, Palevsky HI. Ahmed S, et al. Rheum Dis Clin North Am. 2014 Feb;40(1):103-24. doi: 10.1016/j.rdc.2013.10.001. Rheum Dis Clin North Am. 2014. PMID: 24268012 Review.
A small study to assess outcomes in patients with asymptomatic CTD found to have exercise induced PAH suggest that bosentan may be safe and effective in improving the hemodynamics and outcomes in these patients. This study included only 10 patients, and additional randomized …
A small study to assess outcomes in patients with asymptomatic CTD found to have exercise induced PAH suggest that bosentan may be safe and …
Fabry disease: enzyme replacement therapy.
Bongiorno MR, Pistone G, Aricò M. Bongiorno MR, et al. J Eur Acad Dermatol Venereol. 2003 Nov;17(6):676-9. doi: 10.1046/j.1468-3083.2003.00831.x. J Eur Acad Dermatol Venereol. 2003. PMID: 14761135
Fabry disease is a multisystem disorder associated with wide variability in clinical expression. Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A. ...Outcome measures include neurological manifestations (acroparaesthes …
Fabry disease is a multisystem disorder associated with wide variability in clinical expression. Fabry disease is an X-linked lysosom …
Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study.
Madsen CV, Bundgaard H, Rasmussen ÅK, Sørensen SS, Petersen JH, Køber L, Feldt-Rasmussen U, Petri H. Madsen CV, et al. Scand Cardiovasc J. 2017 Aug;51(4):207-216. doi: 10.1080/14017431.2017.1332383. Epub 2017 May 25. Scand Cardiovasc J. 2017. PMID: 28545342
OBJECTIVES: In patients with Fabry disease (FD), left ventricular hypertrophy and arrhythmias are frequently observed and cardiac involvement is the leading cause of death. Long-term efficacy of enzyme replacement therapy (ERT) on cardiac involvement is unclear. We …
OBJECTIVES: In patients with Fabry disease (FD), left ventricular hypertrophy and arrhythmias are frequently observed and cardiac inv …
alpha-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
Oder D, Liu D, Hu K, Üçeyler N, Salinger T, Müntze J, Lorenz K, Kandolf R, Gröne HJ, Sommer C, Ertl G, Wanner C, Nordbeck P. Oder D, et al. Circ Cardiovasc Genet. 2017 Oct;10(5):e001691. doi: 10.1161/CIRCGENETICS.116.001691. Circ Cardiovasc Genet. 2017. PMID: 29018006 Clinical Trial.
Cardiac magnetic resonance imaging revealed replacement fibrosis in loco typico (18/26, 69%), particularly in subjects >50 years. Elderly subjects had advanced heart failure, and 6 (23%) were suggested for implantable cardioverter-defibrillator therapy. ...
Cardiac magnetic resonance imaging revealed replacement fibrosis in loco typico (18/26, 69%), particularly in subjects >50 years. …
Anderson-Fabry disease in Austria.
Lorenz M, Hauser AC, Püspök-Schwarz M, Kotanko P, Arias I, Zodl H, Kramar R, Paschke E, Voigtländer T, Sunder-Plassmann G. Lorenz M, et al. Wien Klin Wochenschr. 2003 Apr 30;115(7-8):235-40. doi: 10.1007/BF03040321. Wien Klin Wochenschr. 2003. PMID: 12778775
As disease progresses there is renal, cardiac, cerebral and vascular involvement, with most patients experiencing renal insufficiency, cardiac hypertrophy or stroke. ...Recently available enzyme replacement therapy has the potential to control or even reverse diseas …
As disease progresses there is renal, cardiac, cerebral and vascular involvement, with most patients experiencing renal insufficiency …
Effects of agalsidase-beta administration on vascular function and blood pressure in familial Anderson-Fabry disease.
Stamerra CA, De Feo M, Castelli V, d'Angelo M, Cimini A, Grassi D, Ferri C. Stamerra CA, et al. Eur J Hum Genet. 2021 Feb;29(2):218-224. doi: 10.1038/s41431-020-00721-9. Epub 2020 Sep 18. Eur J Hum Genet. 2021. PMID: 32948848 Free PMC article.
As a result, affected patients manifest with an increased risk of developing ischemic stroke, peripheral neuropathy, cardiac dysfunction, and chronic kidney disease. The protective effects of enzyme replacement therapy (ERT), the milestone in Fabry disease treatment, again …
As a result, affected patients manifest with an increased risk of developing ischemic stroke, peripheral neuropathy, cardiac dysfunct …
Presymptomatic diagnosis of Fabry's disease: a case report.
Hasselbalch RB, Madsen PL, Bundgaard H, Theilade J. Hasselbalch RB, et al. J Med Case Rep. 2016 Nov 29;10(1):330. doi: 10.1186/s13256-016-1124-z. J Med Case Rep. 2016. PMID: 27899143 Free PMC article.
In boys, onset has been reported in early childhood with complaints initially comprising neuropathic pain, reduced sweat production, and gastrointestinal symptoms. Later the cardiac, renal, and central nervous systems may become affected. Female mutation carriers may remai …
In boys, onset has been reported in early childhood with complaints initially comprising neuropathic pain, reduced sweat production, and gas …
27 results