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

Year Number of Results
1966 1
1970 2
1972 1
1973 5
1974 1
1975 3
1976 6
1977 6
1978 13
1979 6
1980 5
1981 7
1982 8
1983 8
1984 9
1985 8
1986 4
1987 11
1988 5
1989 6
1990 5
1991 4
1992 8
1993 19
1994 7
1995 11
1996 13
1997 14
1998 7
1999 9
2000 13
2001 10
2002 19
2003 23
2004 19
2005 15
2006 22
2007 18
2008 33
2009 44
2010 36
2011 39
2012 53
2013 33
2014 35
2015 39
2016 57
2017 56
2018 51
2019 49
2020 64
2021 50
2022 47
2023 42
2024 18

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999 results

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Page 1
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. ...Management of adult patients depends on 1) a perso …
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene leading to deficient alpha-galacto …
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.
Fabry disease is an X-linked inherited lysosomal disorder that causes accumulation of glycosphingolipids in body fluids and tissues, leading to progressive organ damage and reduced life expectancy. ...Biomarkers reflecting involvement of various organs in adult patients wi …
Fabry disease is an X-linked inherited lysosomal disorder that causes accumulation of glycosphingolipids in body fluids and tissues, …
Advances in diagnosis and management of Pompe disease.
Davison JE. Davison JE. J Mother Child. 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. J Mother Child. 2020. PMID: 33554498 Free PMC article. Review.
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase and subsequent progressive glycogen accumulation due to mutations in the GAA gene. ...Long-term survivors with Pompe disease are now manife …
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase …
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.
Therefore, several new treatment approaches have been explored over the past decade. Chaperone therapy (Migalastat; 1-deoxygalactonojirimycin) is the only other currently approved therapy for Fabry disease. ...Treatments currently under evaluation in (pre)clinical t …
Therefore, several new treatment approaches have been explored over the past decade. Chaperone therapy (Migalastat; 1-deoxygalactonoj …
Treatment trials in Niemann-Pick type C disease.
Sitarska D, Tylki-Szymańska A, Ługowska A. Sitarska D, et al. Metab Brain Dis. 2021 Dec;36(8):2215-2221. doi: 10.1007/s11011-021-00842-0. Epub 2021 Oct 1. Metab Brain Dis. 2021. PMID: 34596813 Free PMC article. Review.
Niemann-Pick type C (NPC) disease is a genetically determined neurodegenerative metabolic disease. It belongs to the lysosomal storage diseases and its main cause is impaired cholesterol transport in late endosomes or lysosomes. ...Effective treatment is stil …
Niemann-Pick type C (NPC) disease is a genetically determined neurodegenerative metabolic disease. It belongs to the lysosomal sto …
Consensus treatment recommendations for late-onset Pompe disease.
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease. Cupler EJ, et al. Muscle Nerve. 2012 Mar;45(3):319-33. doi: 10.1002/mus.22329. Epub 2011 Dec 15. Muscle Nerve. 2012. PMID: 22173792 Free PMC article. Review.
INTRODUCTION: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neu …
INTRODUCTION: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme a …
European expert consensus statement on therapeutic goals in Fabry disease.
Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ. Wanner C, et al. Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Mol Genet Metab. 2018. PMID: 30017653 Review.
BACKGROUND: Fabry disease, an inherited lysosomal storage disorder, causes multi-organ pathology resulting in substantial morbidity and a reduced life expectancy. ...RESULTS: A series of organ-specific treatment goals were developed. For each organ system, op …
BACKGROUND: Fabry disease, an inherited lysosomal storage disorder, causes multi-organ pathology resulting in substantial morb …
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.
Gb3 accumulates in lysosomes of different types of cells of the heart, kidneys, skin, eyes, central nervous system, and gastrointestinal system, and may lead to different clinical scenarios. ...The treatment, in turn, currently focuses mainly on replacing the …
Gb3 accumulates in lysosomes of different types of cells of the heart, kidneys, skin, eyes, central nervous system, and gastro …
Infantile-onset Pompe disease: Diagnosis and management.
Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, Maxit C, Schenone A, Spécola N. Bay LB, et al. Arch Argent Pediatr. 2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271. Arch Argent Pediatr. 2019. PMID: 31339275 Free article. English, Spanish.
Here we update the available clinical and diagnostic findings because an early management with enzyme replacement therapy may improve patients' survival and quality of life. We also review the benefits and adverse effects of available treatments and new lines of therape …
Here we update the available clinical and diagnostic findings because an early management with enzyme replacement therapy may improve …
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C. Weinreb NJ, et al. Mol Genet Metab. 2022 May;136(1):4-21. doi: 10.1016/j.ymgme.2022.03.001. Epub 2022 Mar 9. Mol Genet Metab. 2022. PMID: 35367141 Free article. Review.
Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that often presents in early childhood and is associated with damage to multiple organ systems. ...However, patient management and prediction of prognosis may be best served by a dyna …
Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that often presents in early childhood and …
999 results