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

Year Number of Results
1976 2
1977 3
1978 1
1979 1
1980 2
1981 1
1982 2
1983 3
1984 1
1985 2
1986 2
1987 3
1988 3
1990 6
1991 4
1992 6
1993 2
1994 6
1995 8
1996 7
1997 5
1998 7
1999 4
2000 6
2001 4
2002 10
2003 16
2004 10
2005 11
2006 15
2007 16
2008 14
2009 17
2010 19
2011 25
2012 20
2013 34
2014 38
2015 31
2016 37
2017 38
2018 34
2019 40
2020 46
2021 52
2022 54
2023 29
2024 13

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619 results

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Page 1
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. ...
Fabry disease (FD) is an X-linked lysosomal storage disease. A lack of alpha-galactosidase activity results in the accu …
Gaucher Disease: Clinical, Biological and Therapeutic Aspects.
Dandana A, Ben Khelifa S, Chahed H, Miled A, Ferchichi S. Dandana A, et al. Pathobiology. 2016;83(1):13-23. doi: 10.1159/000440865. Epub 2015 Nov 21. Pathobiology. 2016. PMID: 26588331 Free article. Review.
We present a brief review of Gaucher disease (GD), the most common lysosomal storage disease. GD is a rare autosomal recessive disorder characterized by the defective function of the catabolic enzyme beta-glucocerebrosidase (GBA), leading to an accumulation o …
We present a brief review of Gaucher disease (GD), the most common lysosomal storage disease. GD is a rare autosomal re …
Gaucher Disease for Hematologists.
Özdemir GN, Gündüz E. Özdemir GN, et al. Turk J Haematol. 2022 Jun 1;39(2):136-139. doi: 10.4274/tjh.galenos.2021.2021.0683. Epub 2022 Apr 20. Turk J Haematol. 2022. PMID: 35439918 Free PMC article. Review.
Gaucher disease (GD) is a rare hereditary lysosomal storage disease that arises due to deficiency of glucocerebrosidase. ...
Gaucher disease (GD) is a rare hereditary lysosomal storage disease that arises due to deficiency of glucocerebrosidase …
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. ...
Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that often presents in early childho …
Fabry Disease: The Current Treatment Landscape.
Lenders M, Brand E. Lenders M, et al. Drugs. 2021 Apr;81(6):635-645. doi: 10.1007/s40265-021-01486-1. Epub 2021 Mar 15. Drugs. 2021. PMID: 33721270 Free PMC article. Review.
Fabry disease (FD) is a rare X-linked lysosomal storage disease based on a deficiency of alpha-galactosidase A (AGAL) caused by mutations in the alpha-galactosidase A gene (GLA). ...
Fabry disease (FD) is a rare X-linked lysosomal storage disease based on a deficiency of alpha-galactosidase A (AGAL) c …
Fabry Nephropathy.
Colpart P, Félix S. Colpart P, et al. Arch Pathol Lab Med. 2017 Aug;141(8):1127-1131. doi: 10.5858/arpa.2016-0418-RS. Arch Pathol Lab Med. 2017. PMID: 28745569 Free article. Review.
Fabry disease is a rare X-linked recessive lysosomal storage disease. Multiple mutations of the GLA gene lead to a deficient or absent activity of the lysosomal enzyme alpha-galactosidase A, resulting in progressive glycotriaosylceramide accumulation in many …
Fabry disease is a rare X-linked recessive lysosomal storage disease. Multiple mutations of the GLA gene lead to a defi …
Fabry's disease.
El-Abassi R, Singhal D, England JD. El-Abassi R, et al. J Neurol Sci. 2014 Sep 15;344(1-2):5-19. doi: 10.1016/j.jns.2014.06.029. Epub 2014 Jun 21. J Neurol Sci. 2014. PMID: 25106696 Review.
Orphan Peripheral Neuropathies.
Finsterer J, Löscher WN, Wanschitz J, Iglseder S. Finsterer J, et al. J Neuromuscul Dis. 2021;8(1):1-23. doi: 10.3233/JND-200518. J Neuromuscul Dis. 2021. PMID: 32986679 Free PMC article. Review.
NARP, MNGIE, SANDO), spinocerebellar ataxias (e.g. TMEM240), hereditary spastic paraplegias (e.g UBAP1), lysosomal storage disease (e.g. Schindler disease), peroxisomal disorders, porphyrias, and other types (e.g. giant axonal neuropathy, Tangier disease). .. …
NARP, MNGIE, SANDO), spinocerebellar ataxias (e.g. TMEM240), hereditary spastic paraplegias (e.g UBAP1), lysosomal storage …
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Valayannopoulos V, et al. Orphanet J Rare Dis. 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. Orphanet J Rare Dis. 2010. PMID: 20385007 Free PMC article. Review.
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. ...
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated w …
Current and new therapies for mucopolysaccharidoses.
Penon-Portmann M, Blair DR, Harmatz P. Penon-Portmann M, et al. Pediatr Neonatol. 2023 Feb;64 Suppl 1:S10-S17. doi: 10.1016/j.pedneo.2022.10.001. Epub 2022 Oct 26. Pediatr Neonatol. 2023. PMID: 36464587 Free article. Review.
619 results