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

Year Number of Results
1963 1
1964 1
1966 1
1967 2
1968 5
1969 6
1970 8
1971 4
1972 11
1973 6
1974 4
1975 7
1976 6
1977 8
1978 6
1979 3
1980 3
1981 5
1982 8
1983 4
1984 3
1985 6
1986 3
1987 1
1988 6
1989 9
1990 6
1991 10
1992 12
1993 14
1994 21
1995 22
1996 18
1997 24
1998 21
1999 13
2000 14
2001 26
2002 27
2003 29
2004 24
2005 28
2006 28
2007 30
2008 30
2009 28
2010 31
2011 28
2012 26
2013 37
2014 40
2015 50
2016 40
2017 34
2018 32
2019 34
2020 38
2021 33
2022 24
2023 21
2024 5

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952 results

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Page 1
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG. Stirnemann J, et al. Int J Mol Sci. 2017 Feb 17;18(2):441. doi: 10.3390/ijms18020441. Int J Mol Sci. 2017. PMID: 28218669 Free PMC article. Review.
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. ...Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas ty …
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. ...Type-1 Gaucher disease, which …
[Gaucher disease: A review].
Nguyen Y, Stirnemann J, Belmatoug N. Nguyen Y, et al. Rev Med Interne. 2019 May;40(5):313-322. doi: 10.1016/j.revmed.2018.11.012. Epub 2019 Jan 11. Rev Med Interne. 2019. PMID: 30638965 Review. French.
Gaucher disease is a rare autosomal recessive genetic disease, caused by a deficiency of the lysosomal enzyme, glucocerebrosidase that leads to the accumulation of its substrate (glucosylceramide) in lysosomal macrophages. ...Specific treatment, such as enzym …
Gaucher disease is a rare autosomal recessive genetic disease, caused by a deficiency of the lysosomal enzyme, glucocer …
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 …
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 …
Update of treatment for Gaucher disease.
Kong W, Lu C, Ding Y, Meng Y. Kong W, et al. Eur J Pharmacol. 2022 Jul 5;926:175023. doi: 10.1016/j.ejphar.2022.175023. Epub 2022 May 13. Eur J Pharmacol. 2022. PMID: 35569551 Review.
Gaucher disease (GD), the most common lysosomal disorders, is a rare autosomal recessive hereditary disease that is caused by deficiency of glucosylceramidase. ...
Gaucher disease (GD), the most common lysosomal disorders, is a rare autosomal recessive hereditary disease that is cau …
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.
Daykin EC, Ryan E, Sidransky E. Daykin EC, et al. Mol Genet Metab. 2021 Feb;132(2):49-58. doi: 10.1016/j.ymgme.2021.01.002. Epub 2021 Jan 9. Mol Genet Metab. 2021. PMID: 33483255 Free PMC article. Review.
Gaucher disease (GD), resulting from biallelic mutations in the gene GBA1, is a monogenic recessively inherited Mendelian disorder with a wide range of phenotypic presentations. The more severe forms of the disease, acute neuronopathic GD (GD2) and chronic ne …
Gaucher disease (GD), resulting from biallelic mutations in the gene GBA1, is a monogenic recessively inherited Mendelian diso …
GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches.
Riboldi GM, Di Fonzo AB. Riboldi GM, et al. Cells. 2019 Apr 19;8(4):364. doi: 10.3390/cells8040364. Cells. 2019. PMID: 31010158 Free PMC article. Review.
Parkinson's disease (PD) is the second most common degenerative disorder. Although the disease was described more than 200 years ago, its pathogenetic mechanisms have not yet been fully described. ...GBA mutations are the most common genetic risk factor of the di …
Parkinson's disease (PD) is the second most common degenerative disorder. Although the disease was described more than 200 yea …
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. ...We also consider future directions and goals, including acceleration of accur …
Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that often presents in early childho …
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS, LaMarca ME, Scott CR, Sidransky E. Hruska KS, et al. Hum Mutat. 2008 May;29(5):567-83. doi: 10.1002/humu.20676. Hum Mutat. 2008. PMID: 18338393 Review.
Gaucher disease (GD) is an autosomal recessive disorder caused by the deficiency of glucocerebrosidase, a lysosomal enzyme that catalyses the hydrolysis of the glycolipid glucocerebroside to ceramide and glucose. ...
Gaucher disease (GD) is an autosomal recessive disorder caused by the deficiency of glucocerebrosidase, a lysosomal enzyme tha …
Gaucher Disease in Bone: From Pathophysiology to Practice.
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P. Hughes D, et al. J Bone Miner Res. 2019 Jun;34(6):996-1013. doi: 10.1002/jbmr.3734. Epub 2019 Jun 24. J Bone Miner Res. 2019. PMID: 31233632 Free PMC article. Review.
Gaucher disease (GD) is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunction in multiple organs. ...In adult patients, we recommend DXA of the lumbar spine and left and right hips, with careful protocols designed to exclude focal disea …
Gaucher disease (GD) is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunction in multiple organs. . …
952 results