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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1964 1
1966 1
1967 2
1969 1
1970 3
1971 1
1972 2
1973 4
1974 7
1975 4
1976 4
1977 4
1978 4
1979 3
1980 2
1981 2
1982 2
1983 2
1984 5
1985 3
1986 1
1987 4
1988 5
1989 4
1990 3
1991 8
1992 5
1993 8
1994 8
1995 10
1996 7
1997 8
1998 6
1999 4
2000 9
2001 23
2002 36
2003 28
2004 27
2005 20
2006 32
2007 49
2008 25
2009 35
2010 42
2011 32
2012 29
2013 46
2014 37
2015 35
2016 34
2017 40
2018 35
2019 40
2020 52
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2022 40
2023 38
2024 17

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905 results

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Page 1
[Fabry disease: A review].
Michaud M, Mauhin W, Belmatoug N, Bedreddine N, Garnotel R, Catros F, Lidove O, Gaches F. Michaud M, et al. Rev Med Interne. 2021 Feb;42(2):110-119. doi: 10.1016/j.revmed.2020.08.019. Epub 2020 Nov 7. Rev Med Interne. 2021. PMID: 33172708 Review. French.
Fabry disease is the second most frequent lysosomal storage disorder. ...Recognition of Fabry disease is important because treatments are available, but it may be challenging. ...
Fabry disease is the second most frequent lysosomal storage disorder. ...Recognition of Fabry disease is importa …
Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week.
Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC, Elliott PM, Hagege A, Kuusisto J, Linhart A, Nordbeck P, Olivotto I, Pietilä-Effati P, Namdar M. Pieroni M, et al. J Am Coll Cardiol. 2021 Feb 23;77(7):922-936. doi: 10.1016/j.jacc.2020.12.024. J Am Coll Cardiol. 2021. PMID: 33602475 Free article. Review.
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient alpha-galactosidase A activity that leads to an accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart. ...Following the introduction of enzym …
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient alpha-galactosidase A activity …
Fabry disease revisited: Management and treatment recommendations for adult patients.
Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Ortiz A, et al. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Mol Genet Metab. 2018. PMID: 29530533 Free article. Review.
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene leading to deficient alpha-galactosidase A activity, glycosphingolipid accumulation, and life-threatening complications. ...Updated monitoring and treatment guidelines for pe …
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene leading to deficient alpha-galacto …
A Review of Fabry Disease.
Chan B, Adam DN. Chan B, et al. Skin Therapy Lett. 2018 Mar;23(2):4-6. Skin Therapy Lett. 2018. PMID: 29562089 Free article. Review.
Fabry disease (FD) is an X-linked lysosomal storage disease. A lack of alpha-galactosidase activity results in the accumulation of globotriaosylceramide in cells of various systems, leading to multi-systemic effects. The cutaneous hallmark of FD is a specific …
Fabry disease (FD) is an X-linked lysosomal storage disease. A lack of alpha-galactosidase activity results in the accu …
Developments in the treatment of Fabry disease.
van der Veen SJ, Hollak CEM, van Kuilenburg ABP, Langeveld M. van der Veen SJ, et al. J Inherit Metab Dis. 2020 Sep;43(5):908-921. doi: 10.1002/jimd.12228. Epub 2020 Mar 2. J Inherit Metab Dis. 2020. PMID: 32083331 Free PMC article. Review.
Enzyme replacement therapy (ERT) with recombinant alpha-galactosidase A (r-alphaGAL A) for the treatment of Fabry disease has been available for over 15 years. Long-term treatment may slow down disease progression, but cardiac, renal, and cerebral complicatio …
Enzyme replacement therapy (ERT) with recombinant alpha-galactosidase A (r-alphaGAL A) for the treatment of Fabry disease has …
Fabry disease: genetics, pathology, and treatment.
Bernardes TP, Foresto RD, Kirsztajn GM. Bernardes TP, et al. Rev Assoc Med Bras (1992). 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. Rev Assoc Med Bras (1992). 2020. PMID: 31939530 Free article. Review.
Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. ...It is considered that the specific treatment should be initiated as soon as a diagnosis is obtained, which can change the progno …
Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the G …
An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.
Germain DP, Altarescu G, Barriales-Villa R, Mignani R, Pawlaczyk K, Pieruzzi F, Terryn W, Vujkovac B, Ortiz A. Germain DP, et al. Mol Genet Metab. 2022 Sep-Oct;137(1-2):49-61. doi: 10.1016/j.ymgme.2022.07.010. Epub 2022 Jul 26. Mol Genet Metab. 2022. PMID: 35926321 Free article. Review.
In contrast, in later-onset Fabry disease, patients have residual alpha-Gal A activity and clinical features are primarily confined to the heart. Individualized therapeutic goals in Fabry disease are required due to varying phenotypes and patient chara …
In contrast, in later-onset Fabry disease, patients have residual alpha-Gal A activity and clinical features are primarily con …
Fabry Disease and the Heart: A Comprehensive Review.
Azevedo O, Cordeiro F, Gago MF, Miltenberger-Miltenyi G, Ferreira C, Sousa N, Cunha D. Azevedo O, et al. Int J Mol Sci. 2021 Apr 23;22(9):4434. doi: 10.3390/ijms22094434. Int J Mol Sci. 2021. PMID: 33922740 Free PMC article. Review.
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene that result in a deficiency of the enzymatic activity of alpha-galactosidase A and consequent accumulation of glycosphingolipids in body fluids and lysosomes of the cell …
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene that result in a deficiency o …
Fabry disease.
Germain DP. Germain DP. Orphanet J Rare Dis. 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. Orphanet J Rare Dis. 2010. PMID: 21092187 Free PMC article. Review.
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true preval …
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent ly …
Migalastat: A Review in Fabry Disease.
McCafferty EH, Scott LJ. McCafferty EH, et al. Drugs. 2019 Apr;79(5):543-554. doi: 10.1007/s40265-019-01090-4. Drugs. 2019. PMID: 30875019 Free PMC article. Review.
Fabry disease is a rare lysosomal disorder characterized by deficient or absent alpha-galactosidase A activity resulting from mutations in the GLA gene. ...Given its convenient oral regimen and the limited therapeutic options available, migalastat is an important tr …
Fabry disease is a rare lysosomal disorder characterized by deficient or absent alpha-galactosidase A activity resulting from …
905 results