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

Year Number of Results
1972 1
1973 1
1975 2
1976 2
1977 1
1978 1
1979 3
1980 2
1981 4
1982 5
1983 1
1985 4
1986 2
1987 6
1988 2
1989 4
1990 8
1991 3
1992 1
1993 3
1994 12
1995 7
1996 2
1997 8
1998 5
1999 6
2000 7
2001 4
2002 6
2003 3
2004 4
2005 2
2006 11
2007 9
2008 9
2009 4
2010 7
2011 16
2012 10
2013 7
2014 13
2015 9
2016 7
2017 11
2018 11
2019 8
2020 12
2021 19
2022 9
2023 11
2024 9

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286 results

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Page 1
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) …
Gaucher disease (GD), resulting from biallelic mutations in the gene GBA1, is a monogenic recessively inherited Mendelian diso …
Lysosomal storage diseases.
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Platt FM, et al. Nat Rev Dis Primers. 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. Nat Rev Dis Primers. 2018. PMID: 30275469 Review.
Consequently, the cellular pathogenesis of these diseases is complex and is currently incompletely understood. Several LSDs can be treated with approved, disease-specific therapies that are mostly based on enzyme replacement. ...
Consequently, the cellular pathogenesis of these diseases is complex and is currently incompletely understood. Several LSDs can be treated w …
The ovine Type II Gaucher disease model recapitulates aspects of human brain disease.
Winner LK, Beard H, Karageorgos L, Smith NJ, Hopwood JJ, Hemsley KM. Winner LK, et al. Biochim Biophys Acta Mol Basis Dis. 2023 Apr;1869(4):166658. doi: 10.1016/j.bbadis.2023.166658. Epub 2023 Jan 29. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 36720445 Free article.
Acute neuronopathic (type II) Gaucher disease (GD) is a devastating, untreatable neurological disorder resulting from mutations in the glucocerebrosidase gene (GBA1), with subsequent accumulation of glucosylceramide and glucosylsphingosin …
Acute neuronopathic (type II) Gaucher disease (GD) is a devastating, untreatable neurological diso …
Elevated holo-transcobalamin in Gaucher disease type II: A case report.
Basgalupp SP, Donis KC, Siebert M, E Vairo FP, Artigalas O, de Camargo Pinto LL, Behringer S, Spiekerkoetter U, Hannibal L, Schwartz IVD. Basgalupp SP, et al. Am J Med Genet A. 2021 Aug;185(8):2471-2476. doi: 10.1002/ajmg.a.62252. Epub 2021 May 24. Am J Med Genet A. 2021. PMID: 34031990 Review.
Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of beta-glucocerebrosidase. ...We suggest higher levels of holo-TC could be associated with a more severe (neuronopathic) GD, and be a biomarker of GD type II....
Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of beta-glucocerebrosidase. ...We su …
Metabolic cardiomyopathies.
Guertl B, Noehammer C, Hoefler G. Guertl B, et al. Int J Exp Pathol. 2000 Dec;81(6):349-72. doi: 10.1046/j.1365-2613.2000.00186.x. Int J Exp Pathol. 2000. PMID: 11298185 Free PMC article. Review.
Examples of these disorders are glycogen storage diseases (e.g. glycogenosis type II and III), lysosomal storage diseases (e.g. Niemann-Pick disease, Gaucher disease, I-cell disease, various types of mucopolysaccharidoses, GM1 gangliosido …
Examples of these disorders are glycogen storage diseases (e.g. glycogenosis type II and III), lysosomal storage diseases (e.g …
The clinical management of Type 2 Gaucher disease.
Weiss K, Gonzalez A, Lopez G, Pedoeim L, Groden C, Sidransky E. Weiss K, et al. Mol Genet Metab. 2015 Feb;114(2):110-122. doi: 10.1016/j.ymgme.2014.11.008. Epub 2014 Nov 14. Mol Genet Metab. 2015. PMID: 25435509 Free PMC article. Review.
Gaucher disease, the inherited deficiency of the enzyme glucocerebrosidase, is the most common of the lysosomal storage disorders. ...This review, designed to serve as a guide to physicians treating newborns and infants with Gaucher disease, discusses …
Gaucher disease, the inherited deficiency of the enzyme glucocerebrosidase, is the most common of the lysosomal storage disord …
Pharmacological treatment of pediatric Gaucher disease.
Gupta P, Pastores G. Gupta P, et al. Expert Rev Clin Pharmacol. 2018 Dec;11(12):1183-1194. doi: 10.1080/17512433.2018.1549486. Epub 2018 Dec 3. Expert Rev Clin Pharmacol. 2018. PMID: 30444430 Review.
Gaucher disease (GD) is an autosomal recessive disorder resulting from the deficiency of the lysosomal enzyme glucocerebrosidase (b-glucosidase), associated with varying degrees of visceral, bone and central nervous system pathology, leading to wide phenotypic diver …
Gaucher disease (GD) is an autosomal recessive disorder resulting from the deficiency of the lysosomal enzyme glucocerebrosida …
Realization of Amyloid-like Aggregation as a Common Cause for Pathogenesis in Diseases.
Naskar S, Gour N. Naskar S, et al. Life (Basel). 2023 Jul 7;13(7):1523. doi: 10.3390/life13071523. Life (Basel). 2023. PMID: 37511898 Free PMC article. Review.
Amyloids were conventionally referred to as extracellular and intracellular accumulation of Abeta42 peptide, which causes the formation of plaques and neurofibrillary tangles inside the brain leading to the pathogenesis in Alzheimer's disease. Subsequently, amyloid-like de …
Amyloids were conventionally referred to as extracellular and intracellular accumulation of Abeta42 peptide, which causes the formation of p …
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites. Reuser AJJ, et al. Hum Mutat. 2019 Nov;40(11):2146-2164. doi: 10.1002/humu.23878. Epub 2019 Aug 7. Hum Mutat. 2019. PMID: 31342611 Free PMC article.
Identification of variants in the acid alpha-glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed. We report on the number, nature, frequency, and geographic distribution of GAA sequence variants listed in the Pompe Registr …
Identification of variants in the acid alpha-glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overvi …
286 results